| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs565098856 |
G>A |
Pathogenic |
5 prime UTR variant, stop gained, coding sequence variant |
|
rs755604487 |
G>A,C |
Likely-pathogenic |
5 prime UTR variant, missense variant, coding sequence variant, stop gained |
|
rs768324201 |
G>A,T |
Pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
|
rs774075356 |
A>G,T |
Likely-pathogenic |
Synonymous variant, 5 prime UTR variant, stop gained, coding sequence variant |
|
rs878854420 |
A>G |
Pathogenic, likely-pathogenic |
5 prime UTR variant, missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant |
|
rs878854421 |
A>- |
Pathogenic, likely-pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant |
|
rs1057518337 |
T>C |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs1064796868 |
G>A,T |
Likely-pathogenic |
Stop gained, coding sequence variant, synonymous variant, 5 prime UTR variant |
|
rs1064796911 |
AG>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs1085307845 |
G>T |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs1554210066 |
C>- |
Pathogenic, not-provided |
Splice donor variant |
|
rs1554210073 |
GT>A |
Likely-pathogenic, pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1554210094 |
G>A |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, stop gained |
|
rs1554212744 |
AA>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1562150844 |
CTTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1562171209 |
T>C |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs1562189451 |
A>C |
Pathogenic |
5 prime UTR variant, coding sequence variant, stop gained |
|
rs1562203136 |
->T |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1582164609 |
CTTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1582175173 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1582206547 |
->A |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|