| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs1016320330 |
G>C,T |
Likely-pathogenic |
Synonymous variant, coding sequence variant, non coding transcript variant, missense variant |
|
rs1198710710 |
C>T |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs1595127294 |
C>A |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs1595208914 |
CGTCCAGGAGCAGC>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1595450125 |
C>G |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs1595450393 |
C>T |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs1595472739 |
C>G |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs1595472741 |
G>A |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs1595472756 |
A>G |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs1595472764 |
G>A |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs1595476797 |
G>A |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1595482918 |
->C |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|