| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs137852812 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs137852813 |
A>C,G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs137852814 |
T>A,C |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs138459502 |
G>A,C |
Uncertain-significance, likely-benign, likely-pathogenic |
Coding sequence variant, synonymous variant, missense variant |
|
rs139290271 |
A>G |
Benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs141594736 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, synonymous variant, missense variant |
|
rs143962515 |
T>C |
Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs188849286 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
3 prime UTR variant |
|
rs200786705 |
G>C |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, missense variant |
|
rs201085754 |
A>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs201982464 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign |
Intron variant |
|
rs202043599 |
C>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs267607079 |
C>A,G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs267607080 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs369277679 |
C>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
|
rs387906518 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs397517146 |
T>C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs397517147 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs397517148 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs397517149 |
T>G |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs397517150 |
A>C,G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs397517153 |
A>C,G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs397517154 |
C>A,G,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs397517156 |
T>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs397517159 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs397517163 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs397517164 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs397517166 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs397517172 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs397517174 |
A>C,G |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs397517177 |
A>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs397517180 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs574088829 |
T>A,G |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs727503436 |
AAAAA>-,AAA,AAAA,AAAAAA |
Benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs727504295 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs727505093 |
A>C,T |
Pathogenic, likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs727505381 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs730881034 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Missense variant, coding sequence variant |
|
rs730881043 |
A>T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs730881044 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs730881045 |
A>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs730881046 |
G>T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs730881048 |
CC>TT |
Pathogenic |
Missense variant, coding sequence variant |
|
rs730881054 |
A>C,G,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs772823827 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant, coding sequence variant, synonymous variant |
|
rs786205522 |
T>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs886041923 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1057517861 |
T>C,G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057517918 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057519963 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1553353452 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1553354396 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1553356111 |
G>A,C |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1553362937 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1558474706 |
G>T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1572830219 |
CTT>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
|
rs1572830693 |
AA>TC |
Likely-pathogenic |
Coding sequence variant, missense variant |