| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs35892240 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs138152469 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs141985098 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs144476508 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs144657822 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs146421389 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs149628651 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, synonymous variant |
|
rs184337406 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Intron variant |
|
rs199469464 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs199469465 |
C>A,T |
Pathogenic |
Stop gained, coding sequence variant, synonymous variant |
|
rs199469466 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs202139170 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs587776938 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587777656 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587784444 |
C>G,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs758972811 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
|
rs770648545 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs926127838 |
A>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs1085307899 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1131691316 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1276291921 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs1555465891 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1555465917 |
GCTGGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555465928 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555465942 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555465966 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1596667741 |
AC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1596667777 |
G>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1596669232 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |