| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs115440602 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs121434312 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs121434313 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs121434314 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs121434315 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs121434316 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs121434317 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs121434318 |
T>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs147204964 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs147474792 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs750777752 |
C>A,G,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant, 5 prime UTR variant, synonymous variant |
|
rs754706111 |
C>G,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs864622410 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs878855228 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057517941 |
C>T |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
|
rs1057517943 |
GGAAAATGTCAGG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057518150 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1057518683 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1060502505 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555389690 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555391053 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555391061 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555391161 |
T>C |
Pathogenic |
Splice donor variant |
|
rs1555392032 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555392609 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555392750 |
->TA |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555392759 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555392783 |
AGTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555392791 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1566867209 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1566867246 |
CTTACGT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1566868022 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1566868058 |
G>A |
Pathogenic |
Splice donor variant |
|
rs1566876690 |
T>G |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1566876895 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1566876929 |
TAG>C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1566876941 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1566876954 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1595733611 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs1595746834 |
->GT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1595746858 |
->CTAG |
Likely-pathogenic |
Coding sequence variant, inframe indel, stop gained |
|
rs1595763557 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1595763656 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1595763659 |
AAGTT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1595763662 |
GTTA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1595763925 |
AGAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1595763928 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |