| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs34082669 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs150181226 |
A>G |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs267606699 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs267606700 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs267606701 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs267606702 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs372631124 |
G>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs377546036 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs387907081 |
G>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs538543007 |
C>A,T |
Likely-pathogenic |
Intron variant |
|
rs587776509 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs587776510 |
->GGCGC |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs587776895 |
->GCGGC |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs587776896 |
->G |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs587776897 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs587776898 |
C>G |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs587776951 |
C>T |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs767601069 |
A>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs770371904 |
G>A,T |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs773215035 |
C>A,T |
Uncertain-significance, likely-pathogenic |
Missense variant, stop gained, non coding transcript variant, coding sequence variant |
|
rs1014317450 |
T>A,G |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |