| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs775592405 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1293246328 |
C>A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1553241570 |
C>G |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs1553245038 |
AC>TGAGAA |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1553247374 |
C>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1553264873 |
GTTT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant |
|
rs1553265189 |
A>- |
Pathogenic |
Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1553265703 |
TT>A |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1558105796 |
G>A |
Pathogenic |
Downstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1558146278 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs1558148010 |
CTTT>- |
Pathogenic |
Coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant |
|
rs1558149683 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant |
|
rs1558151861 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs1570934766 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant |
|
rs1570938310 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant |
|
rs1570941501 |
->TT |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|