| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs17711594 |
T>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Coding sequence variant, missense variant |
|
rs61733363 |
G>C |
Benign-likely-benign, likely-pathogenic, benign |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs121909835 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121918576 |
G>C |
Pathogenic |
Stop gained, coding sequence variant |
|
rs121918577 |
G>A,T |
Pathogenic |
Upstream transcript variant, missense variant, synonymous variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant |
|
rs121918578 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs139444207 |
G>T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs141252097 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs144484128 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs148598583 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs375659222 |
G>A,C |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
|
rs753942596 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs754012367 |
GTCA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs773065850 |
->GCATGCTCATGCTGTCGACG |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs781377291 |
C>T |
Likely-pathogenic |
Splice donor variant |
|
rs781616522 |
C>G,T |
Likely-pathogenic |
Splice donor variant |
|
rs794727139 |
C>T |
Pathogenic |
Splice donor variant |
|
rs794727166 |
C>A,T |
Uncertain-significance, pathogenic |
Intron variant |
|
rs976670244 |
T>A,C |
Likely-pathogenic |
Missense variant, genic upstream transcript variant, initiator codon variant |
|
rs1060499536 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1064797315 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1161389116 |
G>A,C |
Likely-pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs1456336365 |
A>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1554090012 |
A>T |
Likely-pathogenic |
Splice donor variant, upstream transcript variant, genic upstream transcript variant |
|
rs1561671507 |
C>T |
Pathogenic |
Splice donor variant |
|
rs1561679951 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1581164936 |
TGTTC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581164958 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581166539 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1581180469 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1581186849 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581190641 |
G>A |
Pathogenic |
Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs1581217626 |
C>AG |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant |