| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28937594 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs62541771 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs111302956 |
G>A,T |
Pathogenic, benign, likely-benign |
Coding sequence variant, synonymous variant, stop gained |
|
rs121908621 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908622 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908623 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908625 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908626 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908627 |
C>A,T |
Likely-pathogenic, pathogenic, uncertain-significance, likely-benign |
Coding sequence variant, missense variant |
|
rs121908628 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs121908629 |
C>G,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs121908631 |
G>A |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs121908632 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908633 |
CA>AC |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908634 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs138694766 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs139425890 |
T>A |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant |
|
rs139442869 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs141172610 |
G>C,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, intron variant |
|
rs141814943 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
|
rs149675783 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs150045137 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs199877522 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs200812140 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs369078814 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs371881711 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs372872777 |
G>A |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
|
rs387906347 |
C>T |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs539332585 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs745517517 |
G>A |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
|
rs747199032 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs747807631 |
T>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, coding sequence variant |
|
rs748704459 |
C>T |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
|
rs748949603 |
A>G |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs754892377 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs757091387 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs757523840 |
G>C |
Likely-pathogenic, pathogenic |
Coding sequence variant, stop gained |
|
rs759945787 |
A>C,G |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs760509369 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
|
rs762009737 |
C>T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs762106720 |
G>A,C |
Pathogenic, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs762796465 |
CAA>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
|
rs764698870 |
G>A,T |
Pathogenic, likely-pathogenic |
Intron variant, coding sequence variant, missense variant |
|
rs766420673 |
G>A,T |
Pathogenic |
Intron variant, coding sequence variant, synonymous variant, stop gained |
|
rs769215411 |
G>A,C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs769716748 |
G>A |
Likely-pathogenic |
Intron variant, coding sequence variant, missense variant |
|
rs773729410 |
G>A |
Pathogenic, likely-pathogenic |
Intron variant, coding sequence variant, missense variant |
|
rs774867424 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs776582567 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs779694939 |
A>G |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs786204476 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, stop gained |
|
rs786204558 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs794727505 |
A>G |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs886042120 |
->ATGA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886042195 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886043636 |
->A |
Uncertain-significance, likely-pathogenic |
Splice donor variant |
|
rs886044449 |
G>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
|
rs886044514 |
C>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, intron variant, stop gained |
|
rs918998080 |
C>T |
Affects |
Intron variant |
|
rs1057516275 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057516340 |
AACAAAGT>- |
Likely-pathogenic |
Coding sequence variant, intron variant, frameshift variant |
|
rs1057516364 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1057516374 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1057516597 |
C>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant |
|
rs1057516657 |
CT>- |
Likely-pathogenic |
Coding sequence variant, intron variant, frameshift variant |
|
rs1057516705 |
C>- |
Likely-pathogenic |
Coding sequence variant, splice acceptor variant |
|
rs1057516746 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1057516798 |
A>G |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs1057516906 |
G>A |
Likely-pathogenic |
Coding sequence variant, intron variant, stop gained |
|
rs1057516915 |
TAGA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057516965 |
A>- |
Likely-pathogenic |
Coding sequence variant, intron variant, frameshift variant |
|
rs1057517094 |
->T |
Likely-pathogenic |
Coding sequence variant, intron variant, frameshift variant |
|
rs1057517157 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1209266607 |
C>G |
Pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs1212623980 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained, intron variant |
|
rs1236647498 |
G>A |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs1357906793 |
G>C |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1423445315 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1436850036 |
->CT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554657922 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1554658453 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554658877 |
ACCT>- |
Pathogenic |
Coding sequence variant, splice donor variant, intron variant |
|
rs1554658910 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs1554658924 |
AGATGCAAAGTGTCAGAAAGGGGGGTCCTA>T |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs1554661549 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs1554661552 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs1554661561 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs1554661569 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs1554661582 |
T>C |
Pathogenic |
Splice acceptor variant, intron variant |
|
rs1554663295 |
C>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, splice donor variant |
|
rs1554663368 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554664043 |
C>T |
Pathogenic |
Splice donor variant, intron variant |
|
rs1554664064 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs1554664090 |
G>A |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, stop gained, intron variant |
|
rs1563946658 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |