| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs74470618 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Downstream transcript variant, missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
| rs75602337 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant |
| rs140308808 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant |
| rs142103808 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, intron variant |
| rs143343508 |
T>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant |
| rs144673252 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, synonymous variant, intron variant |
| rs144701688 |
A>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant, intron variant |
| rs147325795 |
A>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
| rs148828104 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, non coding transcript variant, intron variant |
| rs151047156 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant |
| rs182360785 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, synonymous variant |
| rs199840434 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant |
| rs199952377 |
A>C |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained |
| rs200140363 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs200649783 |
C>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant |
| rs201207790 |
G>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
| rs267607174 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs267607175 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant |
| rs371669862 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Splice donor variant, intron variant |
| rs387907085 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained |
| rs397515334 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
| rs397515533 |
A>G |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs397515535 |
T>C |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
| rs397515536 |
A>T |
Pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant |
| rs431905505 |
A>G |
Pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant |
| rs541910371 |
T>C,G |
Likely-pathogenic, uncertain-significance |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
| rs745486923 |
->TC |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant |
| rs746128772 |
C>T |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant |
| rs754712378 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs756004566 |
CA>- |
Likely-pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
| rs758456073 |
G>A,T |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant, stop gained |
| rs765513105 |
C>T |
Pathogenic-likely-pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant |
| rs767751856 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs776631281 |
T>C |
Pathogenic |
Intron variant |
| rs886043316 |
C>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
| rs886044119 |
G>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs1050086118 |
G>A,T |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, missense variant |
| rs1327489348 |
->C |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant |
| rs1553313859 |
C>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant |
| rs1553316926 |
T>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant |
| rs1553317813 |
CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT>- |
Likely-pathogenic |
Non coding transcript variant, intron variant, coding sequence variant, splice acceptor variant |
| rs1553324519 |
A>T |
Pathogenic |
Genic upstream transcript variant, intron variant |
| rs1558342399 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |