| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs138247472 |
C>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
|
rs758726258 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant, 5 prime UTR variant |
|
rs1057524147 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1283838287 |
C>T |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs1555639317 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555644480 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555651572 |
T>G |
Pathogenic |
Splice donor variant |
|
rs1555660806 |
G>T |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555661506 |
A>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1567758622 |
C>T |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
|
rs1567844041 |
C>T |
Pathogenic |
Synonymous variant, stop gained, 5 prime UTR variant, coding sequence variant |
|
rs1567844114 |
G>T |
Pathogenic |
Synonymous variant, stop gained, 5 prime UTR variant, coding sequence variant |
|
rs1567870541 |
C>T |
Pathogenic |
5 prime UTR variant, coding sequence variant, stop gained |
|
rs1567920106 |
C>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, stop gained |
|
rs1567920209 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1567974030 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1567995650 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1568003569 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1568006217 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1568014839 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1568015106 |
C>G |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1568015131 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1568018905 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1568027692 |
C>T |
Pathogenic-likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1598432041 |
CA>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1598620094 |
G>A,C |
Pathogenic |
Splice donor variant |
|
rs1598676325 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1598940393 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1598940661 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |