| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs151340620 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs151340621 |
C>A,T |
Pathogenic |
Synonymous variant, stop gained, genic downstream transcript variant, coding sequence variant |
|
rs151340622 |
T>G |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs151340623 |
T>C |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs151340624 |
C>T |
Pathogenic, uncertain-significance |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs151340625 |
G>A |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs151340626 |
C>T |
Likely-pathogenic, pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs151340627 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs151340628 |
G>A,C |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs151340629 |
G>T |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs151340630 |
G>T |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs273585644 |
A>G |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs273585645 |
T>C |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs273585646 |
C>A |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs273585647 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs273585648 |
G>C |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs273585649 |
A>G |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs273585650 |
T>G |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs797044808 |
C>T |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs797044809 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs797044810 |
C>T |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs797044811 |
C>T |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs797044812 |
C>T |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs797044813 |
C>T |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs797044814 |
C>T |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs797044815 |
TGTTAAAGCATATAGCACAGATG>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1049618423 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1131691487 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1131691678 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1557192084 |
G>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1557194018 |
G>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1557194090 |
C>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1557194353 |
G>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1557194719 |
TGAC>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1569540047 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1569540051 |
G>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1569540369 |
G>C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1569540382 |
G>T |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1569540502 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1569540520 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1602123307 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |