| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs2228159 |
A>C,G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs116928232 |
C>G,T |
Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic |
Synonymous variant, missense variant, coding sequence variant |
| rs121965086 |
A>G |
Pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
| rs121965087 |
G>C |
Pathogenic |
Intron variant, stop gained, coding sequence variant |
| rs139282720 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs143930279 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, coding sequence variant |
| rs145066614 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, coding sequence variant |
| rs145163592 |
T>A,C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs147493628 |
T>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
| rs200186130 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs200420117 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs201603238 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs267607218 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs367664486 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs369755163 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs371133960 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, 5 prime UTR variant, synonymous variant |
| rs529668674 |
C>A,G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs534838107 |
T>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs587778878 |
C>A |
Pathogenic-likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
| rs747214463 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs747508159 |
T>A,C |
Likely-pathogenic |
Splice acceptor variant |
| rs748267444 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs749180806 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, 5 prime UTR variant, missense variant |
| rs749625288 |
A>C,G |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs751625944 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs753796180 |
->GG |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant, initiator codon variant |
| rs754124986 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs754964952 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs756016704 |
G>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs756310979 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs760901300 |
A>G,T |
Likely-pathogenic |
Coding sequence variant, synonymous variant, missense variant |
| rs762559980 |
T>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs762960877 |
C>T |
Likely-pathogenic |
Splice donor variant, intron variant |
| rs766062562 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs766364179 |
G>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, 5 prime UTR variant |
| rs767688436 |
G>C |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant |
| rs768411839 |
T>A,C |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs768826988 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs770074196 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs771904218 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs772137750 |
T>C |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs772684869 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs773533216 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant |
| rs776294856 |
A>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs776472526 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs779712562 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, intron variant |
| rs780495201 |
->A |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs797045094 |
G>A,T |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant, 5 prime UTR variant, missense variant |
| rs912441212 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1011619050 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, 5 prime UTR variant |
| rs1204744283 |
C>G,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs1306336545 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1326903845 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1393039920 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1423914418 |
T>C,G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1446626293 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1457072724 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1554864404 |
G>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1554865199 |
A>G |
Likely-pathogenic |
Splice donor variant |
| rs1554865206 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1554865214 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1554865576 |
A>C |
Pathogenic |
Stop gained, coding sequence variant |
| rs1554866004 |
C>T |
Likely-pathogenic |
Splice donor variant |
| rs1554866097 |
A>T |
Conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, missense variant, coding sequence variant |
| rs1554869292 |
A>C |
Likely-pathogenic |
Intron variant, splice donor variant |
| rs1564751995 |
C>T |
Pathogenic |
Splice donor variant |
| rs1564752665 |
TTTA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1564754574 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1564755287 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1589548972 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1589553174 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1589556901 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1589558062 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1589558169 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1589558218 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1589558414 |
T>C |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |