| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs118203913 |
G>A |
Pathogenic |
5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant |
|
rs140127085 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant |
|
rs141174358 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
5 prime UTR variant, intron variant, non coding transcript variant, coding sequence variant, missense variant |
|
rs192264403 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
|
rs748350251 |
C>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant |
|
rs749968109 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, missense variant, genic downstream transcript variant |
|
rs753344909 |
A>- |
Likely-pathogenic |
5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs753527390 |
C>T |
Likely-pathogenic |
5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant |
|
rs763862849 |
T>C,G |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant |
|
rs772820136 |
A>C,G,T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs796053521 |
C>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs796053522 |
T>C |
Pathogenic |
Intron variant, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant |
|
rs913477149 |
T>A,C |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs1575494302 |
C>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs1575509263 |
GC>T |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, 5 prime UTR variant, coding sequence variant |
|