SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs141816048 |
A>G |
Likely-pathogenic |
Intron variant, splice acceptor variant |
rs147954907 |
G>A |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs186935606 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, genic upstream transcript variant, 5 prime UTR variant |
rs199538582 |
G>A,C,T |
Likely-pathogenic |
Coding sequence variant, missense variant, intron variant |
rs368085516 |
C>A,G,T |
Pathogenic |
Missense variant, intron variant, synonymous variant, coding sequence variant, stop gained |
rs376573993 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs539703340 |
C>A,T |
Pathogenic |
Synonymous variant, stop gained, coding sequence variant, intron variant |
rs750803388 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant, intron variant |
rs764239923 |
G>A,C |
Pathogenic |
Intron variant, missense variant, coding sequence variant |
rs775011495 |
G>A |
Pathogenic, likely-pathogenic |
Intron variant, coding sequence variant, stop gained |
rs779432560 |
C>A,G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, upstream transcript variant, genic upstream transcript variant, missense variant |
rs886041056 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs886041057 |
G>A |
Pathogenic |
Splice donor variant |
rs1555401209 |
C>- |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant |
rs1595795307 |
T>C |
Likely-pathogenic |
Genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant |
rs1595795343 |
T>C |
Likely-pathogenic |
Genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant |
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