| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs752746786 |
A>C,G,T |
Pathogenic, likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
| rs758432471 |
C>T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
| rs869312821 |
T>C |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
| rs869312822 |
A>C |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
| rs869312823 |
T>C |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
| rs869312824 |
A>G |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
| rs869312825 |
T>C |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, initiator codon variant |
| rs869312826 |
C>T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
| rs1064795844 |
T>C |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
| rs1135401746 |
C>G |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
| rs1231842600 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs1553191393 |
ATC>- |
Pathogenic |
Coding sequence variant, inframe indel |
| rs1553194155 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1553194162 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
| rs1557889974 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant |
| rs1557898800 |
C>T |
Likely-pathogenic |
Intron variant, coding sequence variant, missense variant |
| rs1570640673 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |