| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs35583475 |
G>A,T |
Likely-pathogenic, likely-benign, benign |
Non coding transcript variant, synonymous variant, stop gained, coding sequence variant |
| rs121908427 |
G>A,T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant, synonymous variant |
| rs121908428 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs121908429 |
G>A |
Uncertain-significance, pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs140916001 |
C>G |
Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, missense variant |
| rs149640638 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
| rs186141509 |
T>C |
Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Genic downstream transcript variant, intron variant |
| rs199747285 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs515726215 |
C>- |
Uncertain-significance, pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, splice donor variant |
| rs515726216 |
AG>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs515726217 |
->A |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs515726218 |
GGGAAAGA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs573444140 |
C>A,G |
Likely-pathogenic |
Stop gained, coding sequence variant, missense variant, non coding transcript variant, intron variant |
| rs606231157 |
T>- |
Pathogenic, uncertain-significance |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs606231158 |
GCATCTGGGA>- |
Pathogenic, uncertain-significance |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant |
| rs606231229 |
G>A |
Uncertain-significance, likely-pathogenic |
Stop gained, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
| rs762730861 |
C>T |
Likely-pathogenic, uncertain-significance |
Splice donor variant |
| rs768514327 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
| rs775111365 |
->AC |
Likely-pathogenic |
Intron variant, frameshift variant, coding sequence variant, non coding transcript variant |
| rs1057516262 |
G>A |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
| rs1057516271 |
C>A |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
| rs1057516337 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
| rs1057516378 |
C>A,G |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
| rs1057516435 |
->A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant |
| rs1057516456 |
G>A |
Likely-pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1057516752 |
AGCTT>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant |
| rs1057516898 |
C>T |
Likely-pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1057516925 |
C>T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
| rs1057516969 |
C>T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
| rs1057517109 |
G>-,GG |
Likely-pathogenic |
Intron variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs1057517289 |
->T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant |
| rs1057517334 |
GCTGATATAT>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant |
| rs1057518713 |
->G |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
| rs1372841592 |
T>C |
Likely-pathogenic |
Intron variant, splice acceptor variant |
| rs1555376682 |
A>C |
Likely-pathogenic |
Splice donor variant, non coding transcript variant, genic downstream transcript variant |
| rs1555376688 |
C>A |
Likely-pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant |
| rs1555376818 |
->A |
Likely-pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant |
| rs1555377252 |
C>T |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
| rs1555377971 |
C>T |
Likely-pathogenic |
Splice donor variant, intron variant |
| rs1555378707 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
| rs1555380716 |
->C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs1555380998 |
A>T |
Likely-pathogenic |
Splice donor variant |
| rs1555381538 |
A>C |
Likely-pathogenic |
Splice donor variant |
| rs1555384169 |
C>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, frameshift variant |
| rs1555384171 |
TGTGATGGAGTTCT>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, frameshift variant |
| rs1595442984 |
C>A |
Pathogenic |
Splice donor variant |