| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs73589395 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
| rs79901179 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, missense variant |
| rs119485088 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant |
| rs119485089 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs119485090 |
C>T |
Pathogenic |
5 prime UTR variant, coding sequence variant, stop gained |
| rs119485092 |
G>A,T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, coding sequence variant, missense variant |
| rs119485093 |
C>A |
Pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
| rs119485094 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs119485095 |
G>A |
Pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
| rs144486241 |
C>G,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
| rs146576740 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs200749953 |
A>G |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs747291494 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Splice donor variant |
| rs759581558 |
G>A |
Pathogenic, likely-benign |
Missense variant, coding sequence variant |
| rs771785420 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs776397915 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs879254001 |
T>C |
Pathogenic |
Splice donor variant |
| rs1555511101 |
C>G |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs1555511861 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555511978 |
G>T |
Pathogenic |
Splice donor variant |
| rs1597385624 |
->A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1597401735 |
AAAG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1597407138 |
G>A |
Pathogenic |
Splice donor variant |