Hemochromatosis ALL SNP TABLE
From Bioinformatikpedia
<figtable id="all_snps">
| Position | Amino acid change | Type | HGMD/dbSNP id |
|---|---|---|---|
| 6 | Arg-Ser | Non-Synonymous | CM032270,rs149342416 |
| 7 | Pro-Pro | Synonymous | rs114758821 |
| 17 | Thr-Ile | Non-Synonymous | rs143662783 |
| 23 | Arg-His | Non-Synonymous | rs148161858 |
| 26 | Arg-Leu | Non-Synonymous | N/A |
| 35 | Met-Thr | Non-Synonymous | rs2242956 |
| 43 | Gly-Asp | Non-Synonymous | N/A |
| 53 | Val-Met | Non-Synonymous | CM994469,rs28934889 |
| 58 | Phe-Phe | Synonymous | rs147297176 |
| 59 | Val-Met | Non-Synonymous | CM994470,rs28934890,rs111033557 |
| 63 | His-His | Synonymous | HM971246,rs147426902 |
| 63 | His-Asp | Non-Synonymous | CM960827,rs1799945 |
| 65 | Ser-Cys | Non-Synonymous | CM990718,rs1800730 |
| 66 | Arg-Cys | Non-Synonymous | CM033969 |
| 66 | Arg-Glu | Non-Synonymous | N/A |
| 67 | Arg-His | Non-Synonymous | rs139523708 |
| 71 | Arg-Term | Nonsense | CM020721 |
| 76 | Ser-Ser | Synonymous | rs62625342 |
| 93 | Gly-Arg | Non-Synonymous | CM990719,rs28934597 |
| 100 | Val-Ala | Non-Synonymous | N/A |
| 103 | Trp-Ala | Non-Synonymous | N/A |
| 105 | Ile-Thr | Non-Synonymous | CM990720,rs28934596 |
| 106 | Met-Thr | Non-Synonymous | N/A |
| 127 | Gln-His | Non-Synonymous | CM990721,rs28934595 |
| 160 | Pro-Thr | Non-Synonymous | rs149662565 |
| 162 | Ala-Ser | Non-Synonymous | rs145475682 |
| 162 | Ala-Ala | Synonymous | rs148480830 |
| 163 | Trp-Ala | Non-Synonymous | N/A |
| 166 | Lys-Glu | Non-Synonymous | rs144170531 |
| 168 | Glu-Gln | Non-Synonymous | CM004810,rs146519482 |
| 168 | Glu-Term | Nonsense | CM004106 |
| 169 | Trp-Term | Nonsense | CM004107 |
| 176 | Ala-Val | Non-Synonymous | CM015326 |
| 183 | Leu-Pro | Non-Synonymous | CM081301 |
| 188 | Pro-Val | Non-Synonymous | N/A |
| 192 | Gln-Term | Nonsense | rs140957442 |
| 217 | Thr-Ile | Non-Synonymous | rs4986950 |
| 224 | Arg-Gly | Non-Synonymous | N/A |
| 224 | Arg-Gln | Non-Synonymous | CM034097,rs62625346 |
| 224 | Arg-Trp | Non-Synonymous | rs144797937 |
| 230 | Tyr-His | Non-Synonymous | N/A |
| 245 | Pro-Ala | Non-Synonymous | rs140515012 |
| 248 | Ala-Thr | Non-Synonymous | N/A |
| 251 | Phe-Leu | Non-Synonymous | rs150402693 |
| 252 | Glu-Gly | Non-Synonymous | rs138176635 |
| 256 | Val-Ala | Non-Synonymous | N/A |
| 259 | Asn-Ser | Non-Synonymous | rs143846467 |
| 272 | Val-Leu | Non-Synonymous | CM024530 |
| 275 | Gly-Glu | Non-Synonymous | N/A |
| 277 | Glu-Lys | Non-Synonymous | CM994771,rs140080192 |
| 282 | Cys-Ser | Non-Synonymous | CM004391 |
| 282 | Cys-Tyr | Non-Synonymous | CM960828,rs1800562 |
| 283 | Gln-Pro | Non-Synonymous | CM032271,rs111033563 |
| 295 | Val-Ala | Non-Synonymous | HM030028,rs143175221 |
| 298 | Glu-Glu | Synonymous | rs114038675 |
| 311 | Ser-Arg | Non-Synonymous | N/A |
| 315 | Val-Val | Synonymous | rs148632352 |
| 315 | Val-Gly | Non-Synonymous | rs147519426 |
| 318 | Val-Ile | Non-Synonymous | rs141229562 |
| 322 | Ile-Thr | Non-Synonymous | rs150716212 |
| 327 | Ile-Thr | Non-Synonymous | rs138993448 |
| 330 | Arg-Met | Non-Synonymous | CM990722,rs111033558 |
| 339 | Met-Val | Non-Synonymous | N/A |
| 342 | Tyr-Tyr | Synonymous | rs35201683 |
| 342 | Tyr-Term | Nonsense | rs62625348 |
| 347 | Arg-His | Non-Synonymous | rs146508927 |
</figtable>
