| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs144078282 |
T>A,C |
Likely-pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
| rs150857620 |
T>A,C |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
| rs185461628 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs200203460 |
G>A,C,T |
Pathogenic |
Genic downstream transcript variant, missense variant, stop gained, coding sequence variant, synonymous variant |
| rs374473067 |
C>A |
Pathogenic |
Stop gained, coding sequence variant, intron variant |
| rs375934856 |
C>T |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
| rs748010262 |
G>A,T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
| rs748915609 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
| rs759500860 |
C>A |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
| rs777202372 |
G>A,T |
Pathogenic |
Stop gained, coding sequence variant, synonymous variant |
| rs777313457 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
| rs786205137 |
C>T |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
| rs786205138 |
T>C |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
| rs786205139 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs876657402 |
A>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
| rs886041117 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
| rs886041118 |
A>G |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
| rs886041119 |
->C |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
| rs886041120 |
A>T |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
| rs974377052 |
C>T |
Pathogenic |
Splice donor variant |
| rs1064796757 |
T>G |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
| rs1064796961 |
ATG>- |
Likely-pathogenic |
Inframe deletion, genic downstream transcript variant, coding sequence variant |
| rs1466435969 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555086480 |
T>C |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
| rs1555087619 |
C>T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
| rs1565424666 |
C>A |
Pathogenic |
Intron variant, genic downstream transcript variant |