| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs41289961 |
C>A,G |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
|
rs41289967 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs41307461 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs119477052 |
T>A,C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs119477053 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs148656796 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs149694033 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs149840356 |
A>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs200280742 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs372141290 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs761923202 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, stop gained |
|
rs764376151 |
C>A,G,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, synonymous variant, missense variant |
|
rs771004767 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs779746050 |
->AC |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs780664594 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs951347128 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1037030970 |
A>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1057520049 |
G>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1085307750 |
AG>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant |
|
rs1085307823 |
G>A |
Pathogenic |
Splice donor variant |
|
rs1193250444 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1409849850 |
A>C,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant, non coding transcript variant |
|
rs1554879059 |
T>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1563974797 |
GG>- |
Pathogenic |
Intron variant |
|
rs1564721202 |
->G |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1587358566 |
A>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1587612257 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1587628060 |
A>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1587653832 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs1589994032 |
TTTA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1590003601 |
G>A |
Pathogenic |
Splice donor variant |
|