SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs113020870 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, synonymous variant, coding sequence variant |
rs116836855 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Non coding transcript variant, missense variant, coding sequence variant |
rs141603403 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, non coding transcript variant |
rs143324306 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Coding sequence variant, non coding transcript variant, missense variant |
rs145444272 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Coding sequence variant, non coding transcript variant, missense variant |
rs146243145 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
rs199476396 |
G>C |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs201073369 |
G>A,C |
Benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant |
rs536657086 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, non coding transcript variant, coding sequence variant |
rs544749044 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, non coding transcript variant |
rs587777298 |
G>T |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs587777299 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
rs750176911 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, missense variant |
rs756623659 |
G>A |
Pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant |
rs763818876 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs764160563 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs779170859 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
rs879253787 |
A>G,T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant |
rs879253788 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
rs1239736447 |
C>G,T |
Pathogenic |
Synonymous variant, non coding transcript variant, coding sequence variant, stop gained |
rs1553178276 |
->T |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs1557700705 |
GCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCC>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
rs1557721600 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs1570190059 |
->CGGGC |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs1570193864 |
GCGCCTGCGCC>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs1570195582 |
->CCCG |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs1570242061 |
CGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCT>- |
Likely-pathogenic |
Intron variant, non coding transcript variant, splice acceptor variant, coding sequence variant |