| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28939378 |
C>T |
Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs121908340 |
C>A,G |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs143676440 |
C>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs151173406 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs192564717 |
A>G,T |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, intron variant |
|
rs200605408 |
C>G,T |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant |
|
rs201337379 |
A>C,T |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant |
|
rs201975029 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs267606651 |
A>C |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs369160589 |
A>G |
Likely-pathogenic, pathogenic-likely-pathogenic |
Intron variant |
|
rs373355236 |
G>A,C |
Likely-pathogenic |
Splice donor variant |
|
rs374928784 |
G>A |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs387906925 |
A>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs387906927 |
T>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs398124348 |
C>T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs398124349 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs528261173 |
C>G,T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs553396382 |
G>C,T |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs746019074 |
->TG |
Likely-pathogenic, pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs752922461 |
C>A,G,T |
Likely-pathogenic, pathogenic |
Synonymous variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, upstream transcript variant |
|
rs758259853 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs768733117 |
A>G |
Likely-pathogenic |
Splice acceptor variant, intron variant |
|
rs780107088 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained |
|
rs794726944 |
A>G |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant |
|
rs794727073 |
A>G |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
|
rs794727301 |
T>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant |
|
rs886042130 |
G>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant, non coding transcript variant, 5 prime UTR variant |
|
rs886042742 |
G>C |
Likely-pathogenic, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs1009298200 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant, synonymous variant, intron variant, non coding transcript variant |
|
rs1057518625 |
G>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant, upstream transcript variant |
|
rs1057520122 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1180515976 |
A>G |
Likely-pathogenic |
Non coding transcript variant, intron variant, missense variant, coding sequence variant |
|
rs1270276368 |
G>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1299775990 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1372794201 |
G>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1428414601 |
C>G,T |
Likely-pathogenic, likely-benign |
Non coding transcript variant, synonymous variant, coding sequence variant, missense variant |
|
rs1436106795 |
->TGTCTGCTGCTGCCGCTG |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, upstream transcript variant, non coding transcript variant, inframe insertion, genic upstream transcript variant |
|
rs1555452127 |
T>C |
Likely-pathogenic |
Missense variant, intron variant, non coding transcript variant, coding sequence variant |
|
rs1596252105 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant |
|
rs1596252196 |
G>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1596256204 |
T>G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1596259672 |
T>G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1596261161 |
G>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1596261208 |
T>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1596261268 |
T>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|