Fabry:Mapping point mutations/SNPdbe data
From Bioinformatikpedia
<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 |
</figtable>
