SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs2229490 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs55875654 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
rs62642527 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs62642535 |
T>A,G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs111866498 |
G>A |
Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs113652076 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs137853248 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs138518139 |
T>A,C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs139794766 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
rs139838884 |
C>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
rs139842104 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs142433309 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, missense variant |
rs142736845 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs143109401 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs143437991 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs143669458 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs147286334 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs149159881 |
G>A |
Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs150129885 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, coding sequence variant |
rs189837148 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs201491948 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs369899077 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs376929779 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs534949106 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs535956121 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs745452577 |
G>A |
Uncertain-significance, likely-pathogenic |
Synonymous variant, coding sequence variant |
rs756733330 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
rs762281715 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs763945561 |
G>-,GG |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs778653296 |
C>A,T |
Pathogenic |
Splice donor variant |
rs868479224 |
C>A,T |
Likely-pathogenic |
Splice acceptor variant |
rs886039909 |
C>T |
Likely-pathogenic |
Intron variant |
rs886041667 |
GC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs886044168 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs927473035 |
C>A,T |
Pathogenic |
Splice donor variant |
rs1064795546 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1373848573 |
C>A |
Likely-pathogenic |
Splice donor variant |
rs1572204991 |
T>C |
Pathogenic |
Intron variant |
rs1572220282 |
T>C |
Pathogenic |
Intron variant |
rs1572304438 |
AAAGTTGCCAAAAGAGAGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1572319254 |
TC>A |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1572356343 |
C>T |
Likely-pathogenic |
Intron variant |