| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs61753359 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs63749871 |
T>C,G |
Pathogenic, uncertain-significance |
Missense variant, initiator codon variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs118203972 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant |
|
rs118203973 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs118203974 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, intron variant, 5 prime UTR variant, coding sequence variant |
|
rs138160928 |
C>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs201826412 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, 5 prime UTR variant, missense variant |
|
rs281865063 |
G>A |
Uncertain-significance, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs281865064 |
G>A,H |
Uncertain-significance, pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs281865065 |
A>G |
Uncertain-significance, pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs751035912 |
AAAAG>-,AAAAGAAAAG |
Uncertain-significance, pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs771529170 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, stop gained, missense variant, genic downstream transcript variant |
|
rs771606350 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant |
|
rs778377449 |
C>T |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs886039361 |
CA>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs886041200 |
C>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1393673267 |
C>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant |
|
rs1555223595 |
CA>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555224772 |
->C |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1565869918 |
G>-,GG |
Pathogenic, uncertain-significance |
Genic upstream transcript variant, frameshift variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs1565921326 |
AG>- |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1565942358 |
->A |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1592294998 |
->T |
Likely-pathogenic |
Genic upstream transcript variant, frameshift variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs1592387932 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|