| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs35353912 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Coding sequence variant, non coding transcript variant, synonymous variant |
|
rs138520224 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, synonymous variant |
|
rs199422235 |
C>G |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs199422237 |
G>A,C |
Pathogenic |
Synonymous variant, non coding transcript variant, coding sequence variant, missense variant |
|
rs199422239 |
C>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, intron variant |
|
rs201805773 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs387906729 |
G>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs587780372 |
G>A |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs782205045 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs782600511 |
->G |
Pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, frameshift variant |
|
rs782663655 |
G>A,T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, missense variant |
|
rs797044695 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant, coding sequence variant, synonymous variant |
|
rs797044706 |
C>A |
Pathogenic |
Intron variant, splice donor variant |
|
rs797044731 |
A>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs878853151 |
->A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs886037836 |
C>A |
Pathogenic |
Intron variant, missense variant, non coding transcript variant, coding sequence variant |
|
rs886041855 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1057515581 |
->TA |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1057518697 |
G>A |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1057519393 |
->A |
Pathogenic |
Splice donor variant |
|
rs1057520198 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs1060499661 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1064793975 |
T>A |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1085307462 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1131692227 |
AGAGC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1556838673 |
CA>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1556842137 |
->T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1556842184 |
G>A |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs1556842268 |
TC>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1556852362 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1556856142 |
T>C |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs1569273900 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1569274606 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1569278313 |
G>- |
Pathogenic-likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1569285562 |
T>C |
Likely-pathogenic |
Non coding transcript variant, initiator codon variant, missense variant |
|
rs1602183619 |
C>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1602183890 |
C>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1602211821 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1602226289 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1602228596 |
->G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1602231587 |
G>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, intron variant |
|
rs1602237187 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, intron variant |
|
rs1602247047 |
C>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |