| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28933408 |
G>A,C,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs28999969 |
C>T |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant |
|
rs28999970 |
C>A,T |
Pathogenic |
Intron variant, missense variant, coding sequence variant |
|
rs28999971 |
C>T |
Pathogenic |
Intron variant, missense variant, coding sequence variant |
|
rs121918686 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs121918687 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918688 |
C>G,T |
Pathogenic |
Missense variant, synonymous variant, intron variant, coding sequence variant |
|
rs121918690 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918691 |
T>C |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs121918692 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918693 |
C>A,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs121918694 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs121918695 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918696 |
G>A,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs121918697 |
G>A |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs121918698 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918699 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918700 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918701 |
A>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918702 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918703 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918704 |
A>G |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs121918705 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs121918706 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918707 |
G>A,C |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs121918708 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121918709 |
T>C |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs146617205 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs367757240 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs387906515 |
GTG>- |
Pathogenic |
Inframe deletion, coding sequence variant, intron variant |
|
rs750905761 |
G>A,C |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs1057519028 |
A>C,G |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs1060499695 |
T>C |
Likely-pathogenic |
Intron variant, missense variant, coding sequence variant |
|
rs1354053223 |
A>C |
Pathogenic, uncertain-significance |
Intron variant, missense variant, coding sequence variant |
|
rs1553609090 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1553609119 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553609152 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1553609157 |
C>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1553609167 |
TC>AT |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1553609179 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553609185 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1553609210 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1553610974 |
C>T |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs1553610984 |
G>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs1553611038 |
G>T |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs1553611075 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1553611083 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1553611094 |
T>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1553613123 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |