| 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 |