| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs142968179 |
C>T |
Pathogenic |
Intron variant, coding sequence variant, genic downstream transcript variant, missense variant |
|
rs150726175 |
G>A |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Intron variant, genic downstream transcript variant, missense variant, coding sequence variant |
|
rs368062092 |
G>A,T |
Pathogenic, uncertain-significance |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs371526758 |
G>A |
Pathogenic |
Intron variant, coding sequence variant, stop gained, genic downstream transcript variant |
|
rs372066126 |
A>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs387907290 |
T>C |
Pathogenic |
Intron variant, genic downstream transcript variant, stop lost, terminator codon variant |
|
rs387907291 |
A>G |
Pathogenic |
Coding sequence variant, missense variant, intron variant, genic downstream transcript variant |
|
rs387907292 |
G>T |
Pathogenic |
Coding sequence variant, missense variant, intron variant, genic downstream transcript variant |
|
rs387907293 |
C>G,T |
Pathogenic |
Synonymous variant, genic downstream transcript variant, coding sequence variant, missense variant, intron variant |
|
rs387907294 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs747653875 |
G>C |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant, intron variant |
|
rs748902766 |
A>G |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs768528387 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs775978677 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant, genic downstream transcript variant |
|
rs778606847 |
T>C |
Pathogenic |
Coding sequence variant, intron variant, genic downstream transcript variant, missense variant |
|
rs1271498710 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1553128102 |
C>A |
Likely-pathogenic |
Intron variant, genic downstream transcript variant, coding sequence variant, missense variant |
|