| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs138028827 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs140470862 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, intron variant |
|
rs142164373 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs149171782 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Synonymous variant, non coding transcript variant, intron variant, coding sequence variant |
|
rs149439295 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs150734953 |
G>A |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs368953604 |
C>T |
Pathogenic |
Intron variant |
|
rs375682284 |
G>A |
Uncertain-significance, likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs542399310 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs751086453 |
->C |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs754489357 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs755750516 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs760848629 |
G>-,GG |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, intron variant |
|
rs763591247 |
GG>-,G |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs763992668 |
G>A,C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, stop gained |
|
rs770591449 |
G>-,GG |
Pathogenic, likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, frameshift variant |
|
rs774508288 |
->G |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, frameshift variant |
|
rs1057518632 |
A>C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
|
rs1064793230 |
A>G |
Likely-pathogenic |
Splice donor variant |
|
rs1064795758 |
A>G |
Likely-pathogenic |
Splice donor variant |
|
rs1199247059 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained |
|
rs1247927038 |
C>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1391418639 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, intron variant |
|
rs1554672911 |
GC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, intron variant |
|
rs1563996824 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, intron variant |
|
rs1563998317 |
CA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1587159769 |
->A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1587162510 |
T>G |
Pathogenic |
Missense variant, intron variant, non coding transcript variant, coding sequence variant |
|
rs1587166550 |
C>- |
Pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1587167234 |
G>TC |
Likely-pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1587176440 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1587178357 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|