| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs2673793 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, benign |
Non coding transcript variant, coding sequence variant, synonymous variant |
|
rs71534278 |
C>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, benign-likely-benign, benign |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs71534280 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs71584501 |
G>A |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs138313730 |
C>A |
Benign-likely-benign, benign, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs140148105 |
A>G |
Conflicting-interpretations-of-pathogenicity, pathogenic, likely-benign |
5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant |
|
rs142354704 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs145142157 |
C>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant |
|
rs149887823 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs150911078 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs151282801 |
C>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs199476401 |
A>C,G |
Likely-pathogenic, uncertain-significance, not-provided |
5 prime UTR variant, missense variant, non coding transcript variant, intron variant, coding sequence variant |
|
rs199476408 |
C>G,T |
Pathogenic, not-provided |
Coding sequence variant, stop gained, non coding transcript variant, missense variant |
|
rs199853307 |
G>C,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
5 prime UTR variant, missense variant, non coding transcript variant, intron variant, coding sequence variant |
|
rs201245117 |
A>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs786205457 |
C>T |
Uncertain-significance, likely-pathogenic |
Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant |
|
rs864621995 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs865921466 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
|
rs1057519570 |
A>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1057519571 |
A>C |
Pathogenic |
Splice acceptor variant |
|
rs1057519572 |
C>T |
Uncertain-significance, pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1057519573 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1589608098 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |