| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs104894003 |
G>A |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
| rs281875331 |
T>C,G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
| rs281875332 |
G>A,C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
| rs281875333 |
G>A,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs281875334 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
| rs368352689 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant |
| rs397515470 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
| rs587779769 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs587779770 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs587779771 |
A>G |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs587779772 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs587779773 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs587779774 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
| rs587779775 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
| rs587779776 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
| rs587779777 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs587780273 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs755437923 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs765265404 |
C>A,T |
Pathogenic |
Synonymous variant, coding sequence variant, missense variant |
| rs768401130 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, synonymous variant, missense variant |
| rs769182426 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, synonymous variant, missense variant |
| rs786205585 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs797044950 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant, synonymous variant |
| rs886039472 |
C>T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
| rs886041266 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs886041267 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs886041270 |
G>C |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs886041309 |
G>A |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
| rs886041790 |
C>A,G |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs1057517888 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1057518071 |
G>C,T |
Likely-pathogenic |
Missense variant, coding sequence variant, synonymous variant |
| rs1057518073 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1057518142 |
->GGAGGGGCCGGACT |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1064793444 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
| rs1131691341 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1554329068 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs1554329078 |
->C |
Pathogenic, uncertain-significance |
Coding sequence variant, frameshift variant |
| rs1554329113 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1554329182 |
GT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554329216 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1554329269 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs1554329281 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
| rs1554329331 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1554329516 |
T>A |
Pathogenic |
Coding sequence variant, missense variant |
| rs1554329523 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1554329546 |
AAG>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
| rs1554329552 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
| rs1554329554 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1554329584 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1554329646 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1562718649 |
->G |
Pathogenic, uncertain-significance |
Coding sequence variant, frameshift variant |
| rs1562718846 |
TGGTGGTGCCGCCAGACA>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
| rs1562719872 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1562720119 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1584261979 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |