| 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 |