SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs3730271 |
A>C,G,T |
Pathogenic, likely-pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
rs11549992 |
G>A |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant |
rs80338796 |
G>A,C |
Pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs80338797 |
G>C,T |
Pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant |
rs80338798 |
C>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant |
rs80338799 |
G>A,C |
Pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant |
rs121434594 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs145611571 |
C>A,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant |
rs200856000 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant |
rs368796800 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
rs370243307 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
rs397516813 |
C>G |
Likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs397516815 |
T>C |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
rs397516822 |
T>C |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs397516823 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign |
Non coding transcript variant, coding sequence variant, intron variant, synonymous variant |
rs397516825 |
T>C |
Likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs397516826 |
C>A,G |
Likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs397516827 |
G>A,C,T |
Likely-pathogenic, uncertain-significance, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs397516828 |
G>A,C |
Pathogenic-likely-pathogenic, not-provided, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs397516829 |
A>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs397516830 |
A>C,G,T |
Likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs587777586 |
A>G |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
rs587777587 |
G>A,C |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
rs587777588 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs587782971 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs587782972 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs727503384 |
G>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant, non coding transcript variant |
rs727505017 |
A>G,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs730881002 |
T>C,G |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, downstream transcript variant, genic downstream transcript variant |
rs730881003 |
A>G |
Pathogenic, likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
rs730881009 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs730881010 |
T>A,C |
Pathogenic-likely-pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs771344560 |
T>C |
Benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
rs869025501 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs876657965 |
GC>AT |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
rs886039607 |
C>G |
Pathogenic, likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs1057517813 |
A>C |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs1057518155 |
T>G |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs1057519815 |
C>G |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs1057524239 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
rs1085307553 |
T>C,G |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs1553609795 |
T>C |
Uncertain-significance, pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
rs1553609996 |
A>C,G |
Uncertain-significance, likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
rs1553610155 |
C>A,G |
Uncertain-significance, likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
rs1575573330 |
G>C |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |