Fabry:Mapping point mutations/SNPdbe data

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<figtable id="tab:SNPdbe"> SNPs found in SNPdbe

SNP disease/non-disease Disease Exp_evidence Perc_wt Perc_mt
L3P non-disease N/A by freq 30 2
A20P disease fabry disease (SwissVar) by cluster 37 2
A29T non-disease N/A Not validated 44 4
N34S disease fabry disease (SwissVar) Not validated 58 3
P40S disease fabry disease (SwissVar). Fabry's disease (PMD) by cluster 92 1
C56G disease fabry disease (SwissVar) Not validated 11 8
S65T disease fabry disease (SwissVar) by cluster 19 18
E66Q disease fabry disease (SwissVar) Not validated 58 5
C94Y disease fabry disease (SwissVar) Not validated 25 1
R112C disease fabry disease (SwissVar) Not validated 29 1
I117S non-disease N/A by cluster 24 2
R118H non-disease N/A Not validated 11 2
R118C non-disease N/A by freq 11 0
S126G non-disease N/A by freq 23 11
N139S non-disease N/A Not validated 12 6
K140T non-disease N/A Not validated 5 6
A143T disease fabry disease (SwissVar) by cluster,freq 19 4
A143P disease fabry disease (SwissVar). Fabry disease (PMD) by cluster,freq 19 5
P146S disease fabry disease (SwissVar). Fabry disease (PMD) Not validated 51 3
D155H non-disease N/A Not validated 50 2
A156T disease fabry disease (SwissVar) by cluster 46 2
W162R disease fabry disease (SwissVar) by cluster 63 0
C174G non-disease N/A Not validated 7 8
H186R non-disease N/A Not validated 4 6
L191P non-disease N/A Not validated 44 1
C202W disease fabry disease (SwissVar). Fabry disease (PMD) Not validated 32 0
N215S disease fabry disease (SwissVar) by cluster 9 3
R227Q disease fabry disease (SwissVar) Not validated 81 2
L243W non-disease N/A Not validated 14 1
R252T non-disease N/A Not validated 10 4
D264V disease fabry disease (SwissVar) by cluster 73 0
D264Y disease fabry disease (SwissVar) Not validated 73 2
D266V disease fabry disease (SwissVar) by cluster 49 1
V269A disease fabry disease (SwissVar) by cluster 13 2
N272S disease fabry disease (SwissVar) by cluster 33 8
Q279E disease fabry disease (SwissVar) by cluster 16 59
I289V non-disease N/A 1000Genome 34 9
A292T non-disease N/A Not validated 24 4
M296V disease fabry disease (SwissVar). Atypical variant of Fabry's disease (PMD) by cluster 11 8
M296I disease fabry disease (SwissVar) by cluster 11 32
S297F disease fabry disease (SwissVar) by cluster 24 0
R301Q disease fabry disease (SwissVar). In Fabry disease (FD) (PMD) by cluster 22 3
D313Y disease fabry disease (SwissVar) 1000Genome,freq,cluster 4 0
V316I non-disease N/A by freq 30 16
P323T non-disease N/A Not validated 24 7
Q327K disease fabry disease (SwissVar). In Fabry disease (FD) (PMD) by cluster 24 3
G328A disease fabry disease (SwissVar) by cluster 29 35
G328R disease fabry disease (SwissVar) by cluster 29 1
R342Q disease fabry disease (SwissVar). Fabry disease (PMD) by cluster 18 1
R356W disease fabry disease (SwissVar) by cluster 20 7
G361R disease fabry disease (SwissVar) by cluster 12 6
R363H disease fabry disease (SwissVar) Not validated 14 2
A368P non-disease N/A by freq 7 8
C382Y non-disease N/A Not validated 4 7
T410A disease fabry disease (SwissVar) by cluster 6 1
L415P non-disease N/A Not validated 38 0
M421V non-disease N/A Not validated 3 9

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