SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs34644609 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
rs117225135 |
G>A |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
rs138884194 |
G>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
rs147571909 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs200788729 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs201680688 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs397514534 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs606231237 |
T>C,G |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
rs745432268 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs760386662 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
rs762729182 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs770649540 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant, stop gained |
rs1271803838 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1335731178 |
T>C,G |
Likely-pathogenic |
Synonymous variant, coding sequence variant, stop gained |
rs1554791360 |
->A |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1564385081 |
A>G |
Pathogenic |
Initiator codon variant, missense variant |
rs1564391327 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1588616299 |
->T |
Likely-pathogenic |
Splice donor variant |