| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs28940291 |
G>A,C |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs28940292 |
G>C |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs28940293 |
T>C,G |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs28940294 |
G>A,C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs28940295 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs28940296 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant |
| rs41278630 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
| rs111723244 |
T>A,C |
Uncertain-significance, pathogenic |
Splice donor variant |
| rs119103261 |
G>C |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs119103262 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs119103263 |
C>G,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
| rs119103264 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
| rs119103265 |
C>T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs119103266 |
C>T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs119103267 |
C>T |
Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
| rs119103268 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
| rs137960129 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Synonymous variant, missense variant, coding sequence variant |
| rs138382758 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs140234726 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs140924661 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, synonymous variant |
| rs141468012 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
| rs144860227 |
G>A,C,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
| rs147136530 |
G>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
| rs148441213 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
| rs369140232 |
C>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs369762154 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs373340717 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs387906990 |
T>C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs387906991 |
C>G,T |
Pathogenic, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs564375950 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs587777875 |
C>T |
Uncertain-significance, likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
| rs755065651 |
G>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
| rs757937208 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs759844257 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs763492075 |
G>A,C,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs764374251 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
| rs773159585 |
C>T |
Uncertain-significance, pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
| rs794727035 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
| rs794729198 |
C>T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs863224064 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs863224065 |
A>G |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs863224066 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs863224068 |
G>A,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs863224069 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs863224967 |
A>C,G,T |
Pathogenic, likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs863224968 |
C>A,G,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
| rs863224969 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs863224970 |
A>G,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs864622480 |
C>A,G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs879253777 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant |
| rs879253861 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs879253862 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs879253925 |
T>C |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs879253939 |
C>T |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained |
| rs879253957 |
C>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs879254010 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs879254011 |
G>A,C,T |
Pathogenic, likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs879254210 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant, stop gained |
| rs879254288 |
T>C |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs1057517987 |
C>T |
Likely-pathogenic, uncertain-significance |
Stop gained, coding sequence variant |
| rs1060501915 |
TGGTGGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060501917 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
| rs1060501925 |
G>C,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs1064793170 |
A>C,G |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs1064794315 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
| rs1064794316 |
A>G |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs1064795818 |
C>G |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs1266361856 |
C>G,T |
Likely-pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs1443036026 |
G>A |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
| rs1458700065 |
T>A,G |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
| rs1478175861 |
AGA>- |
Uncertain-significance, pathogenic |
Coding sequence variant, inframe deletion |
| rs1553141017 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1553142428 |
A>G |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs1553143791 |
->GCA |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, inframe insertion |
| rs1553143890 |
G>T |
Likely-pathogenic |
Splice donor variant |
| rs1553144086 |
G>A |
Likely-pathogenic |
Splice donor variant |
| rs1553145402 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1557515730 |
A>G |
Likely-pathogenic |
Missense variant, initiator codon variant |
| rs1557522794 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
| rs1557522849 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
| rs1557524703 |
T>A,C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs1557525005 |
T>A,C,G |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs1557525153 |
C>G,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs1557537346 |
T>C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs1557539119 |
C>T |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant |
| rs1569816262 |
T>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs1569842296 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1569861708 |
G>A |
Pathogenic |
Splice donor variant |
| rs1569862384 |
TA>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1569865516 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1569871830 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs1569882539 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |