| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs139175550 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, 3 prime UTR variant, coding sequence variant |
|
rs139242973 |
CACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACAC |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Genic downstream transcript variant, 3 prime UTR variant |
|
rs141575859 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant |
|
rs538343832 |
C>G,T |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant, genic downstream transcript variant, non coding transcript variant |
|
rs547679833 |
A>C,G |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs556788423 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Genic downstream transcript variant, intron variant |
|
rs746482522 |
G>T |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs748989557 |
CATAA>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
|
rs751415272 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
|
rs777543198 |
CA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant |
|
rs1057520666 |
G>A |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1085308007 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1558112968 |
C>A |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant, 3 prime UTR variant, non coding transcript variant |
|
rs1558118957 |
T>G |
Likely-pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1558121050 |
G>C |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1572027164 |
ACTG>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant |
|
rs1572031494 |
AATA>- |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant |
|