Hemochromatosis SNPdbe SNP TABLE
From Bioinformatikpedia
Revision as of 14:40, 9 June 2012 by Bernhoferm (talk | contribs)
<figtable id="TODO_ID">
| dbSNP ID | Mutation | Amino acid change | Position | Effect | Experimental evidence |
|---|---|---|---|---|---|
| rs149342416 | R6S | Arg-Ser | 6 | TODO | by freq |
| rs143662783 | T17I | Thr-Ile | 17 | TODO | by freq |
| rs148161858 | R23H | Arg-His | 23 | TODO | 1000Genome,freq,cluster |
| N/A | R26L | Arg-Leu | 26 | TODO | Not validated |
| rs2242956 | M35T | Met-Thr | 35 | TODO | by cluster |
| N/A | G43D | Gly-Asp | 43 | TODO | Not validated |
| rs28934889 | V53M | Val-Met | 53 | TODO | 1000Genome,freq,cluster |
| rs28934890 | V59M | Val-Met | 59 | TODO | Not validated |
| rs1799945 | H63D | His-Asp | 63 | TODO | 1000Genome,freq,cluster |
| rs1800730 | S65C | Ser-Cys | 65 | TODO | 1000Genome,freq,cluster |
| N/A | R66C | Arg-Cys | 66 | TODO | Not validated |
| rs139523708 | R67H | Arg-His | 67 | TODO | Not validated |
| rs28934597 | G93R | Gly-Arg | 93 | TODO | by cluster |
| rs28934596 | I105T | Ile-Thr | 105 | TODO | by cluster |
| N/A | M106T | Met-Thr | 106 | TODO | Not validated |
| rs28934595 | Q127H | Gln-His | 127 | TODO | by cluster |
| rs149662565 | P160T | Pro-Thr | 160 | TODO | Not validated |
| rs145475682 | A162S | Ala-Ser | 162 | TODO | by freq |
| rs144170531 | K166E | Lys-Glu | 166 | TODO | by freq |
| rs146519482 | E168Q | Glu-Gln | 168 | TODO | Not validated |
| N/A | A176V | Ala-Val | 176 | TODO | Not validated |
| N/A | L183P | Leu-Pro | 183 | TODO | Not validated |
| rs4986950 | T217I | Thr-Ile | 217 | TODO | by cluster,freq |
| N/A | R224G | Arg-Gly | 224 | TODO | Not validated |
| rs62625346 | R224Q | Arg-Gln | 224 | TODO | by cluster,freq |
| rs144797937 | R224W | Arg-Trp | 224 | TODO | by freq |
| N/A | Y230H | Tyr-His | 230 | TODO | Not validated |
| rs140515012 | P245A | Pro-Ala | 245 | TODO | Not validated |
| N/A | A248T | Ala-Thr | 248 | TODO | Not validated |
| rs150402693 | F251L | Phe-Leu | 251 | TODO | Not validated |
| rs138176635 | E252G | Glu-Gly | 252 | TODO | Not validated |
| N/A | V256A | Val-Ala | 256 | TODO | Not validated |
| rs143846467 | N259S | Asn-Ser | 259 | TODO | Not validated |
| N/A | G275E | Gly-Glu | 275 | TODO | Not validated |
| rs140080192 | E277K | Glu-Lys | 277 | TODO | 1000Genome,freq,cluster |
| rs1800562 | C282Y | Cys-Tyr | 282 | TODO | 1000Genome,freq,cluster |
| rs111033563 | Q283P | Gln-Pro | 283 | TODO | by cluster |
| rs143175221 | V295A | Val-Ala | 295 | TODO | by freq |
| N/A | S311R | Ser-Arg | 311 | TODO | Not validated |
| rs147519426 | V315G | Val-Gly | 315 | TODO | by freq |
| rs141229562 | V318I | Val-Ile | 318 | TODO | Not validated |
| rs150716212 | I322T | Ile-Thr | 322 | TODO | Not validated |
| rs138993448 | I327T | Ile-Thr | 327 | TODO | Not validated |
| rs111033558 | R330M | Arg-Met | 330 | TODO | by cluster |
| N/A | M339V | Met-Val | 339 | TODO | Not validated |
| rs146508927 | R347H | Arg-His | 347 | TODO | by freq |
</figtable>
