| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28931603 |
G>A |
Pathogenic |
Non coding transcript variant, intron variant, missense variant, coding sequence variant |
|
rs121917866 |
G>A |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs121917868 |
T>C |
Pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, intron variant, coding sequence variant |
|
rs121917870 |
G>A,C |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs121917871 |
G>A,C |
Pathogenic |
Non coding transcript variant, stop gained, missense variant, coding sequence variant |
|
rs121917872 |
G>A |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs121917873 |
G>A |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs121917874 |
C>G |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs370245685 |
T>C |
Pathogenic |
Intron variant |
|
rs576756431 |
A>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs587777271 |
T>C |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs781627991 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs786205053 |
->CGCTG |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs786205054 |
TGCCAGAGCCTGGCACACCTG>- |
Pathogenic |
Inframe deletion, non coding transcript variant, coding sequence variant |
|
rs1553696121 |
->G |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1559677768 |
->T |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1576304776 |
A>C |
Likely-pathogenic |
Splice donor variant |
|
rs1576306536 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1576306935 |
C>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|