Difference between revisions of "Hemochromatosis SNPdbe SNP TABLE"

From Bioinformatikpedia
 
(4 intermediate revisions by the same user not shown)
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−
<figtable id="TODO_ID">
 +
<figtable id="snpdbe_snps">
−
{| class="wikitable" style="width: 500px; margin: 1em 1em 1em 0; border-collapse: collapse; border-style: solid; border-width:0px; border-color: #000"
 +
{| class="wikitable" style="width: 1000px; margin: 1em 1em 1em 0; border-collapse: collapse; border-style: solid; border-width:0px; border-color: #000"
 
|-
  
|-
 
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |dbSNP ID
  
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |dbSNP ID
−
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Mutation
 +
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Sequence
  +
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Type
 
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Amino acid change
  
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Amino acid change
 
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Position
  
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Position
 
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Effect
  
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Effect
  +
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Experimental evidence
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs149342416
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs149342416
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |R6S
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Ser
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Ser
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |6
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |6
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |freq
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143662783
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143662783
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |T17I
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Thr-Ile
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Thr-Ile
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |17
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |17
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |freq
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs148161858
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs148161858
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |R23H
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |23
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |23
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cluster,freq,1000Genome
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |R26L
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Leu
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Leu
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |26
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |26
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs2242956
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs2242956
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |M35T
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Thr
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Thr
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |35
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |35
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cluster
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |G43D
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Asp
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Asp
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |43
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |43
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934889
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934889
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |V53M
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |53
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |53
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cluster,freq,1000Genome
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934890
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934890
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |V59M
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |59
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |59
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cluster
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs1799945
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs1799945
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |H63D
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-Asp
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-Asp
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |63
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |63
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cluster,freq,1000Genome
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs1800730
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs1800730
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |S65C
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Cys
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Cys
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |65
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |65
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cluster,freq,1000Genome
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |R66C
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Cys
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Cys
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |66
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |66
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
  +
|-
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |B990874
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Glu
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |66
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs139523708
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs139523708
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |R67H
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |67
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |67
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934597
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934597
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |G93R
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Arg
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Arg
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |93
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |93
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cluster
  +
|-
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |B990874
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |100
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
  +
|-
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |A001949
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Trp-Ala
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |103
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934596
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934596
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |I105T
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |105
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |105
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cluster
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |M106T
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Thr
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Thr
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |106
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |106
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934595
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934595
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Q127H
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-His
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-His
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |127
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |127
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cluster
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs149662565
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs149662565
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |P160T
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Thr
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Thr
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |160
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |160
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs145475682
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs145475682
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |A162S
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Ser
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Ser
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |162
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |162
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |freq
  +
|-
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |B990874
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Trp-Ala
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |163
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs144170531
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs144170531
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |K166E
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Lys-Glu
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Lys-Glu
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |166
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |166
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |freq
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs146519482
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs146519482
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |E168Q
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gln
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gln
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |168
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |168
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |A176V
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Val
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Val
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |176
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |176
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |L183P
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Leu-Pro
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Leu-Pro
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |183
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |183
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
  +
|-
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |B990874
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Val
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |188
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs4986950
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs4986950
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |T217I
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Thr-Ile
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Thr-Ile
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |217
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |217
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cluster,freq
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |R224G
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gly
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gly
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
−
|-
  
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs62625346
  
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |R224Q
  
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gln
  
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224
  
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
  
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs144797937
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs144797937
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |R224W
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Trp
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Trp
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |freq
  +
|-
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs62625346
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gln
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cluster,freq
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Y230H
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Tyr-His
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Tyr-His
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |230
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |230
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs140515012
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs140515012
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |P245A
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Ala
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Ala
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |245
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |245
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |A248T
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Thr
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Thr
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |248
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |248
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs150402693
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs150402693
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |F251L
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Phe-Leu
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Phe-Leu
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |251
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |251
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs138176635
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs138176635
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |E252G
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gly
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gly
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |252
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |252
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |V256A
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |256
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |256
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143846467
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143846467
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N259S
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Asn-Ser
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Asn-Ser
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |259
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |259
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |G275E
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Glu
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Glu
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |275
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |275
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs140080192
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs140080192
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |E277K
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Lys
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Lys
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |277
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |277
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cluster,freq,1000Genome
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs1800562
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs1800562
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |C282Y
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Tyr
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Tyr
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cluster,freq,1000Genome
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs111033563
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs111033563
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Q283P
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-Pro
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-Pro
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |283
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |283
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cluster
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143175221
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143175221
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |V295A
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |295
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |295
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |freq
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |S311R
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Arg
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Arg
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |311
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |311
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs147519426
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs147519426
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |V315G
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Gly
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Gly
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |315
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |315
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |freq
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs141229562
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs141229562
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |V318I
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ile
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ile
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |318
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |318
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs150716212
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs150716212
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |I322T
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |322
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |322
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs138993448
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs138993448
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |I327T
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |327
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |327
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs111033558
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs111033558
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |R330M
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Met
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Met
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |330
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |330
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Disease causing
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cluster
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |M339V
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Val
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Val
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |339
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |339
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated
 
|-
  
|-
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs146508927
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs146508927
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |R347H
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His
 
| style="border-style: solid; border-width: 1px 1px 1px 1px" |347
  
| style="border-style: solid; border-width: 1px 1px 1px 1px" |347
−
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO
 +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |No effect
  +
| style="border-style: solid; border-width: 1px 1px 1px 1px" |freq
 
|-
  
|-
  +
|+ style="caption-side: bottom; text-align: left" | <font size=1>'''Table 1''': List of all (unique) SNPs for HFE from SNPdbe. Query terms used were Q30201, NP_000401, and HFE. Only results for the human organism were selected. All the positions are adjusted to fit the Q30201 sequence. For a SNP to be "disease causing" the wild type had to have a residue conservation of over 40 or it had to be already listed as "disease hemochromatosis".
−
|+ style="caption-side: bottom; text-align: left" | <font size=1>'''TODO''': description.
  
 
|}
  
|}
 
</figtable>
  
</figtable>

Latest revision as of 13:48, 10 June 2012

<figtable id="snpdbe_snps">

dbSNP ID Sequence Type Amino acid change Position Effect Experimental evidence
rs149342416 NP_000401 Non-synonymous Arg-Ser 6 Disease causing freq
rs143662783 NP_000401 Non-synonymous Thr-Ile 17 Disease causing freq
rs148161858 NP_000401 Non-synonymous Arg-His 23 No effect cluster,freq,1000Genome
N/A Q30201 Non-synonymous Arg-Leu 26 No effect Not validated
rs2242956 NP_000401 Non-synonymous Met-Thr 35 No effect cluster
N/A Q30201 Non-synonymous Gly-Asp 43 Disease causing Not validated
rs28934889 NP_000401 Non-synonymous Val-Met 53 Disease causing cluster,freq,1000Genome
rs28934890 NP_000401 Non-synonymous Val-Met 59 No effect cluster
rs1799945 NP_000401 Non-synonymous His-Asp 63 Disease causing cluster,freq,1000Genome
rs1800730 NP_000401 Non-synonymous Ser-Cys 65 Disease causing cluster,freq,1000Genome
N/A Q30201 Non-synonymous Arg-Cys 66 Disease causing Not validated
N/A B990874 Non-synonymous Arg-Glu 66 No effect Not validated
rs139523708 NP_000401 Non-synonymous Arg-His 67 No effect Not validated
rs28934597 NP_000401 Non-synonymous Gly-Arg 93 Disease causing cluster
N/A B990874 Non-synonymous Val-Ala 100 No effect Not validated
N/A A001949 Non-synonymous Trp-Ala 103 No effect Not validated
rs28934596 NP_000401 Non-synonymous Ile-Thr 105 Disease causing cluster
N/A NP_000401 Non-synonymous Met-Thr 106 No effect Not validated
rs28934595 NP_000401 Non-synonymous Gln-His 127 Disease causing cluster
rs149662565 NP_000401 Non-synonymous Pro-Thr 160 No effect Not validated
rs145475682 NP_000401 Non-synonymous Ala-Ser 162 No effect freq
N/A B990874 Non-synonymous Trp-Ala 163 No effect Not validated
rs144170531 NP_000401 Non-synonymous Lys-Glu 166 No effect freq
rs146519482 NP_000401 Non-synonymous Glu-Gln 168 No effect Not validated
N/A Q30201 Non-synonymous Ala-Val 176 Disease causing Not validated
N/A NP_000401 Non-synonymous Leu-Pro 183 No effect Not validated
N/A B990874 Non-synonymous Pro-Val 188 No effect Not validated
rs4986950 NP_000401 Non-synonymous Thr-Ile 217 No effect cluster,freq
N/A Q30201 Non-synonymous Arg-Gly 224 Disease causing Not validated
rs144797937 NP_000401 Non-synonymous Arg-Trp 224 No effect freq
rs62625346 NP_000401 Non-synonymous Arg-Gln 224 No effect cluster,freq
N/A Q30201 Non-synonymous Tyr-His 230 No effect Not validated
rs140515012 NP_000401 Non-synonymous Pro-Ala 245 No effect Not validated
N/A Q30201 Non-synonymous Ala-Thr 248 No effect Not validated
rs150402693 NP_000401 Non-synonymous Phe-Leu 251 No effect Not validated
rs138176635 NP_000401 Non-synonymous Glu-Gly 252 No effect Not validated
N/A Q30201 Non-synonymous Val-Ala 256 No effect Not validated
rs143846467 NP_000401 Non-synonymous Asn-Ser 259 Disease causing Not validated
N/A Q30201 Non-synonymous Gly-Glu 275 No effect Not validated
rs140080192 NP_000401 Non-synonymous Glu-Lys 277 No effect cluster,freq,1000Genome
rs1800562 NP_000401 Non-synonymous Cys-Tyr 282 Disease causing cluster,freq,1000Genome
rs111033563 NP_000401 Non-synonymous Gln-Pro 283 Disease causing cluster
rs143175221 NP_000401 Non-synonymous Val-Ala 295 Disease causing freq
N/A Q30201 Non-synonymous Ser-Arg 311 No effect Not validated
rs147519426 NP_000401 Non-synonymous Val-Gly 315 Disease causing freq
rs141229562 NP_000401 Non-synonymous Val-Ile 318 No effect Not validated
rs150716212 NP_000401 Non-synonymous Ile-Thr 322 Disease causing Not validated
rs138993448 NP_000401 Non-synonymous Ile-Thr 327 No effect Not validated
rs111033558 NP_000401 Non-synonymous Arg-Met 330 Disease causing cluster
N/A Q30201 Non-synonymous Met-Val 339 No effect Not validated
rs146508927 NP_000401 Non-synonymous Arg-His 347 No effect freq
Table 1: List of all (unique) SNPs for HFE from SNPdbe. Query terms used were Q30201, NP_000401, and HFE. Only results for the human organism were selected. All the positions are adjusted to fit the Q30201 sequence. For a SNP to be "disease causing" the wild type had to have a residue conservation of over 40 or it had to be already listed as "disease hemochromatosis".

</figtable>

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