| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs138305578 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs141484643 |
C>A,G,T |
Pathogenic |
Splice donor variant |
| rs141659018 |
G>A |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
| rs143422889 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs146253630 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
| rs146861723 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs148932047 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs181087667 |
C>T |
Pathogenic, pathogenic-likely-pathogenic |
Splice acceptor variant |
| rs191875469 |
C>T |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Intron variant |
| rs200118797 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs201314157 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Intron variant |
| rs267608669 |
->GGT |
Pathogenic |
Coding sequence variant, inframe indel |
| rs267608670 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs267608671 |
T>C |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
| rs267608672 |
T>A |
Pathogenic |
Coding sequence variant, missense variant |
| rs267608673 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
| rs267608674 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
| rs267608675 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs267608676 |
G>C,T |
Pathogenic |
Coding sequence variant, missense variant |
| rs267608677 |
C>T |
Likely-pathogenic, pathogenic |
Intron variant |
| rs267608678 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs267608679 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs267608680 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs267608681 |
A>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs267608682 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
| rs368905417 |
A>T |
Likely-pathogenic, pathogenic |
Intron variant |
| rs544204280 |
GGG>-,GG,GGGG,GGGGG |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
| rs747257894 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs747683665 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs750874617 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
| rs755165065 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs757209071 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs760408755 |
A>C,G |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
| rs768222183 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs769791060 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs774007232 |
G>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
| rs777280350 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs778985686 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs780755978 |
TCT>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
| rs780839834 |
G>A |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
| rs781745727 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886041636 |
T>C,G |
Pathogenic |
Splice acceptor variant |
| rs890755853 |
C>A |
Likely-pathogenic |
Intron variant |
| rs1041175828 |
C>G,T |
Pathogenic |
Splice acceptor variant |
| rs1057521176 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1085307939 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1168641193 |
C>A |
Pathogenic-likely-pathogenic |
Missense variant, initiator codon variant |
| rs1248039821 |
G>A |
Likely-pathogenic |
3 prime UTR variant |
| rs1399429058 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1462460124 |
T>C |
Pathogenic |
Splice acceptor variant |
| rs1472614573 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1554837782 |
C>T |
Pathogenic |
Splice acceptor variant |
| rs1564612961 |
AG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1564613755 |
A>G |
Pathogenic, pathogenic-likely-pathogenic |
Intron variant |
| rs1564617848 |
G>C |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1564617866 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1564620047 |
G>A |
Likely-pathogenic |
Synonymous variant, coding sequence variant |
| rs1564623882 |
C>T |
Pathogenic |
Splice donor variant |
| rs1589310432 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |