| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs104894917 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894918 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894919 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs112199174 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, synonymous variant, genic downstream transcript variant |
|
rs132630297 |
C>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained, genic downstream transcript variant |
|
rs132630298 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs132630299 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs132630300 |
T>C |
Pathogenic |
Initiator codon variant, missense variant |
|
rs132630301 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs188961105 |
A>G |
Conflicting-interpretations-of-pathogenicity, benign |
Intron variant |
|
rs200423380 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
|
rs398124428 |
G>T |
Pathogenic |
Missense variant, initiator codon variant |
|
rs587777489 |
G>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs758791658 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs771399346 |
A>C,G |
Pathogenic |
Intron variant |
|
rs797044908 |
TG>AA |
Pathogenic |
Stop gained, inframe indel, genic downstream transcript variant, coding sequence variant |
|
rs864309532 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1064795103 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1114167289 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1556013203 |
->GG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1556018932 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1556019105 |
ACA>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs1556019107 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1556020616 |
GAGAGA>T |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1569334260 |
C>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1569343210 |
G>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1602717803 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |