| 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 |