| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs28940573 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
| rs56144125 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs113019349 |
C>G,T |
Likely-pathogenic |
Splice donor variant |
| rs119455953 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs119455954 |
C>T |
Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant |
| rs119455955 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs119455956 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs119455957 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
| rs119455958 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs121908195 |
C>G,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
| rs121908199 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
| rs121908200 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs121908202 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
| rs121908204 |
C>A,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
| rs121908205 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs121908209 |
C>G,T |
Likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
| rs138976576 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs139059149 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs140349036 |
C>G |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Coding sequence variant, synonymous variant |
| rs140726254 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided, benign-likely-benign |
Coding sequence variant, missense variant |
| rs145966505 |
G>T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs146315473 |
->A |
Likely-benign, benign, likely-pathogenic |
Intron variant |
| rs148064565 |
T>A,C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs200138397 |
G>A |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs202189057 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs369699167 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs372564255 |
G>A,C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs398122959 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
| rs553522118 |
G>A,T |
Likely-pathogenic |
Synonymous variant, coding sequence variant, stop gained |
| rs569432039 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs746085696 |
C>G,T |
Pathogenic, likely-pathogenic |
Intron variant |
| rs747594496 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
| rs750428882 |
G>A,C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs752164603 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs755445790 |
T>C |
Pathogenic, uncertain-significance |
Intron variant |
| rs756564767 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs759080581 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
| rs759664259 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs763162812 |
T>A |
Pathogenic |
Missense variant, coding sequence variant |
| rs765380155 |
C>T |
Pathogenic, likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs773546205 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs778232650 |
CATAGCTC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs779615685 |
C>G,T |
Likely-pathogenic |
Splice donor variant |
| rs786204553 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
| rs786204753 |
C>T |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
| rs796053439 |
T>C,G |
Pathogenic-likely-pathogenic, pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs796053440 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs864309505 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs869025274 |
C>A,G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs878855331 |
AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs886037833 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
| rs886041487 |
AT>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs935526225 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs1057516264 |
C>-,CC |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1057516319 |
G>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1057516366 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1057516511 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
| rs1057516579 |
->G |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1057516667 |
C>G,T |
Likely-pathogenic |
Splice acceptor variant |
| rs1057516945 |
A>C |
Pathogenic, likely-pathogenic |
Splice donor variant |
| rs1057517313 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502179 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1064793806 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1131691539 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1131691676 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
| rs1184563885 |
G>A |
Pathogenic-likely-pathogenic |
Stop gained, coding sequence variant |
| rs1216139602 |
->T |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1407106889 |
GT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1424116749 |
T>A,C |
Likely-pathogenic |
Splice acceptor variant |
| rs1465284719 |
C>G,T |
Pathogenic |
Splice donor variant |
| rs1554901463 |
GACCAGAGCAG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554901523 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1554901576 |
GA>- |
Likely-pathogenic |
Coding sequence variant, stop gained |
| rs1554901580 |
->CGGCCACTGGCA |
Likely-pathogenic |
Coding sequence variant, inframe insertion |
| rs1554901731 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
| rs1554901898 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554902020 |
->TCCA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1554902043 |
->T |
Likely-pathogenic |
Coding sequence variant, stop gained |
| rs1554902052 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
| rs1554902085 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554902216 |
AG>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554902217 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1564854729 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs1564855725 |
C>T |
Pathogenic, likely-pathogenic |
Intron variant |
| rs1564855860 |
G>C |
Pathogenic |
Coding sequence variant, stop gained |
| rs1589948943 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |