SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs41473544 |
C>T |
Likely-benign, pathogenic, uncertain-significance |
Coding sequence variant, missense variant, non coding transcript variant |
rs56228116 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
rs137852677 |
A>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs137852678 |
A>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs137852679 |
C>A,T |
Pathogenic |
Non coding transcript variant, synonymous variant, coding sequence variant, missense variant |
rs137852680 |
C>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs387906758 |
G>A,C |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs387906759 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs387906760 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs387906761 |
T>A |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs387906762 |
T>C |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs387906763 |
A>G |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs387906764 |
T>C |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs387906765 |
T>C |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs387906766 |
A>T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs387906767 |
C>G |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs387906768 |
T>G |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs587776713 |
TC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
rs587776714 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
rs587776870 |
C>A |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs587777628 |
G>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs587777629 |
T>C |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs587777630 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs587777704 |
T>C |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs587777705 |
T>C |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs755837357 |
TTCT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs778254943 |
G>A |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs796065052 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs863223398 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs886043118 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
rs1064794955 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs1085307649 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs1341038926 |
->C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
rs1553494436 |
A>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1553495184 |
T>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1553496850 |
T>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1553497886 |
T>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1559011859 |
T>G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1559019204 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1574636674 |
G>A |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant |
rs1574640523 |
C>A |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
rs1574648928 |
C>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1574653439 |
A>G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1574657735 |
A>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1574657750 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1574657762 |
A>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs1574672718 |
C>G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |