| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs34972707 |
A>C |
Likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs77583146 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, intron variant, missense variant |
|
rs116998555 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant, coding sequence variant, missense variant |
|
rs121908118 |
G>A,T |
Pathogenic |
Intron variant, stop gained, coding sequence variant, missense variant |
|
rs121908120 |
T>A |
Conflicting-interpretations-of-pathogenicity, benign, pathogenic, likely-benign |
Intron variant, coding sequence variant, missense variant |
|
rs121908121 |
G>A |
Likely-pathogenic, not-provided, pathogenic |
Intron variant, coding sequence variant, missense variant |
|
rs121908122 |
C>A |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs146902156 |
G>A |
Likely-benign, not-provided, pathogenic |
Missense variant, coding sequence variant, intron variant |
|
rs147680216 |
G>A |
Likely-benign, pathogenic, benign, uncertain-significance |
Missense variant, coding sequence variant, intron variant |
|
rs372993798 |
G>A,T |
Pathogenic, likely-pathogenic |
Intron variant, coding sequence variant, missense variant |
|
rs750260671 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs762739726 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, intron variant |
|
rs775380022 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant |
|
rs775990266 |
G>-,GG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886039453 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, intron variant |
|
rs886039454 |
C>G |
Pathogenic |
Stop gained, coding sequence variant, synonymous variant |
|
rs886041618 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1011303295 |
T>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1057520655 |
A>G |
Pathogenic |
Missense variant, coding sequence variant, intron variant |
|
rs1060499588 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained, intron variant |
|
rs1085308031 |
G>A |
Likely-pathogenic |
Synonymous variant, missense variant, coding sequence variant |
|
rs1268725013 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1553623281 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553623389 |
C>A |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs1575233692 |
C>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1575235227 |
G>A |
Pathogenic |
Synonymous variant, coding sequence variant, missense variant |