| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs137853272 |
T>C,G |
Pathogenic |
Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant |
|
rs138240307 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant |
|
rs730882185 |
C>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs730882186 |
->T |
Pathogenic |
Non coding transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant |
|
rs758800773 |
T>A,C |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs863224851 |
A>C |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs878853055 |
G>A |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1057518202 |
->TATT |
Pathogenic |
Frameshift variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant |
|
rs1057518650 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
|
rs1569242657 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant |
|
rs1569245569 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs1569290395 |
C>T |
Likely-pathogenic |
Coding sequence variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, missense variant |
|
rs1602308324 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1602311804 |
CA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1602352162 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|