| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs119463990 |
C>T |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, coding sequence variant, upstream transcript variant |
|
rs119463991 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained |
|
rs119463992 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, intron variant |
|
rs119463993 |
A>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, intron variant |
|
rs119463994 |
G>A,C |
Likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs119463995 |
G>A |
Pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant |
|
rs119463996 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs119464997 |
C>A,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs119464998 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, intron variant |
|
rs141729611 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant |
|
rs141918432 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
3 prime UTR variant, intron variant, missense variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs142604625 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign |
Synonymous variant, non coding transcript variant, coding sequence variant |
|
rs146272618 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
3 prime UTR variant, missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs146951171 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign |
5 prime UTR variant, genic upstream transcript variant, missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs193922689 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, 5 prime UTR variant, intron variant, upstream transcript variant |
|
rs202047149 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant |
|
rs267606814 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs367868644 |
C>A,G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant |
|
rs368598407 |
A>G,T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant |
|
rs370564232 |
T>A,C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs370819786 |
G>A,T |
Likely-pathogenic |
Splice donor variant |
|
rs374912618 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Downstream transcript variant, missense variant, coding sequence variant, intron variant, 3 prime UTR variant, genic downstream transcript variant, non coding transcript variant |
|
rs377417974 |
C>A,G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, stop gained, missense variant, coding sequence variant, non coding transcript variant |
|
rs398123555 |
A>-,AA |
Pathogenic |
Intron variant, non coding transcript variant, frameshift variant, coding sequence variant |
|
rs398123557 |
->T |
Pathogenic, likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs398123558 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs537001725 |
C>A,T |
Pathogenic-likely-pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs557699482 |
G>A,C,T |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs564632018 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, synonymous variant |
|
rs587777748 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs587777813 |
AT>- |
Pathogenic |
5 prime UTR variant, upstream transcript variant, initiator codon variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs587777814 |
G>- |
Pathogenic |
Genic downstream transcript variant, downstream transcript variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant, intron variant |
|
rs727502847 |
->TATCCAGTTAT |
Uncertain-significance, pathogenic |
Genic downstream transcript variant, downstream transcript variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant, intron variant |
|
rs746763506 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs749557617 |
C>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs750176716 |
T>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, intron variant |
|
rs752921570 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs755092516 |
A>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant, intron variant |
|
rs760731888 |
AC>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs760933616 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant, non coding transcript variant, 5 prime UTR variant |
|
rs764125009 |
G>C,T |
Pathogenic |
Splice donor variant |
|
rs766642997 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, synonymous variant |
|
rs767865405 |
TT>-,TTT |
Pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant |
|
rs773884973 |
G>A,T |
Likely-pathogenic |
Upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant, genic upstream transcript variant, missense variant |
|
rs780921233 |
A>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, non coding transcript variant |
|
rs786205597 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant |
|
rs886042513 |
A>G,T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs886042778 |
->TC |
Uncertain-significance, pathogenic |
Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant, downstream transcript variant, frameshift variant, intron variant |
|
rs886044528 |
A>G,T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs958678700 |
G>A |
Pathogenic |
Intron variant, splice acceptor variant |
|
rs1057516258 |
A>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1057516966 |
C>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1057517160 |
CAGC>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1180986256 |
AAT>- |
Likely-pathogenic |
Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, initiator codon variant, inframe deletion, non coding transcript variant |
|
rs1203741361 |
C>A,G |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant |
|
rs1309132512 |
G>- |
Pathogenic, likely-pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant |
|
rs1438288380 |
A>G,T |
Pathogenic |
Stop gained, intron variant, missense variant, non coding transcript variant, coding sequence variant |
|
rs1554748292 |
A>G |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant, upstream transcript variant |
|
rs1554752805 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1554754182 |
G>T |
Likely-pathogenic |
Intron variant |
|
rs1554754678 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1554761310 |
G>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, intron variant |
|
rs1554761402 |
AT>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, intron variant |
|
rs1554761462 |
G>A |
Likely-pathogenic |
Splice donor variant, non coding transcript variant, synonymous variant, coding sequence variant, intron variant |
|
rs1554766808 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1564284467 |
G>A |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs1564290459 |
->GCCTAAATCT |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1564301594 |
T>A |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1588110929 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1588112379 |
->T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1588136441 |
T>C |
Likely-pathogenic |
Splice donor variant |
|
rs1588222602 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, intron variant, non coding transcript variant |
|
rs1588222870 |
->AT |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
|