SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs28941784 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs35648932 |
C>T |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
rs117269384 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Non coding transcript variant, coding sequence variant, synonymous variant, missense variant |
rs199971687 |
C>T |
Pathogenic |
Splice acceptor variant |
rs369296618 |
G>A |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, 3 prime UTR variant, stop gained |
rs376128990 |
G>A,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, synonymous variant |
rs398124434 |
G>A,C,T |
Pathogenic, pathogenic-likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs557884699 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, stop gained |
rs746219370 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, synonymous variant |
rs749758687 |
C>A,G,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, non coding transcript variant |
rs752866643 |
T>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, synonymous variant, coding sequence variant |
rs756195708 |
C>T |
Likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, synonymous variant, coding sequence variant |
rs756414548 |
C>T |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Missense variant, non coding transcript variant, synonymous variant, coding sequence variant |
rs763935916 |
C>A |
Pathogenic |
Splice acceptor variant, genic upstream transcript variant, upstream transcript variant |
rs771053425 |
G>A |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, synonymous variant, non coding transcript variant, missense variant |
rs771725706 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
rs864309509 |
A>G |
Pathogenic |
Genic upstream transcript variant, upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
rs864309510 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
rs864309511 |
C>T |
Pathogenic |
Genic upstream transcript variant, upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
rs864309512 |
GGC>-,GGCGGC |
Pathogenic |
Inframe deletion, inframe insertion, non coding transcript variant, coding sequence variant |
rs869320654 |
A>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, synonymous variant, missense variant |
rs1383825118 |
GA>- |
Likely-pathogenic |
3 prime UTR variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant |
rs1555274254 |
T>G |
Pathogenic |
Splice acceptor variant |
rs1555274484 |
CAGCCCTCTTACCGTCTCTC>- |
Likely-pathogenic |
Non coding transcript variant, splice donor variant, coding sequence variant, intron variant |
rs1555274493 |
->TCTCTCG |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs1555274496 |
->GGCACACGGCCCGGC |
Pathogenic, likely-pathogenic |
Non coding transcript variant, inframe insertion, coding sequence variant |
rs1555274497 |
CCGGC>-,CCGGCCCGGC |
Pathogenic, likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
rs1555275604 |
T>- |
Likely-pathogenic |
Upstream transcript variant, genic upstream transcript variant, splice acceptor variant |
rs1592996077 |
C>T |
Likely-pathogenic |
Splice donor variant, coding sequence variant, synonymous variant |
rs1592997663 |
TC>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1592998207 |
C>T |
Likely-pathogenic |
Splice donor variant |
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