| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs113112630 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs121913131 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121913132 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs121913133 |
G>A,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs121913134 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs146538551 |
C>G,T |
Likely-benign, pathogenic |
Coding sequence variant, synonymous variant, stop gained |
|
rs151302743 |
A>G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, synonymous variant, coding sequence variant |
|
rs200777054 |
G>C,T |
Likely-pathogenic, uncertain-significance |
Intron variant, splice acceptor variant |
|
rs267606859 |
T>A,C,G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs375654005 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs745646607 |
->CGCT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs759136382 |
C>G,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs763333945 |
A>G |
Pathogenic |
5 prime UTR variant, missense variant, initiator codon variant |
|
rs764623179 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs776172237 |
G>A |
Pathogenic |
Splice donor variant, intron variant |
|
rs780351691 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs796051974 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886037844 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs891954464 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1131691427 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1376342675 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1553323072 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1558357879 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1574663316 |
A>C |
Likely-pathogenic |
Splice acceptor variant |