| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs75761674 |
A>C,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Stop gained, missense variant, coding sequence variant |
|
rs77029288 |
T>C |
Benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant, 3 prime UTR variant |
|
rs77705198 |
G>A |
Benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
|
rs113847665 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs141912603 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs142566406 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs142670870 |
A>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs143594020 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs145063086 |
G>C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, intron variant, missense variant |
|
rs145172949 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs145956175 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign |
Coding sequence variant, missense variant |
|
rs146867324 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Coding sequence variant, synonymous variant |
|
rs368110989 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs372058698 |
A>C,G,T |
Likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs372083517 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs372353067 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant |
|
rs376029542 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs387906637 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs397514557 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs397518447 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs397518450 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs397518465 |
C>A,T |
Pathogenic |
Splice donor variant |
|
rs397518466 |
A>G |
Pathogenic |
Missense variant, initiator codon variant, coding sequence variant, genic upstream transcript variant |
|
rs397518467 |
G>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs397518469 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs397518470 |
C>A,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs397518471 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs397518472 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs587780353 |
A>T |
Pathogenic, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
|
rs747838255 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs751455326 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs780654733 |
A>G |
Pathogenic, likely-benign |
Coding sequence variant, missense variant |
|
rs796052547 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs796052548 |
A>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs796052551 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs796052560 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs869312681 |
T>C |
Likely-pathogenic |
Missense variant, 3 prime UTR variant, coding sequence variant |
|
rs869312916 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs879253875 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs886039239 |
T>C |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs886039604 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs886041308 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886042168 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886043129 |
C>T |
Pathogenic |
Stop gained, intron variant, coding sequence variant |
|
rs886043681 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, coding sequence variant |
|
rs1000800098 |
G>C,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1057518070 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1057520116 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1057521810 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant |
|
rs1057523843 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1057524089 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1060503228 |
G>C |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1064794679 |
C>G |
Likely-pathogenic |
Intron variant |
|
rs1064795647 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1064796608 |
A>C,G |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs1064796658 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1064796950 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1085307961 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1238779318 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1250662891 |
G>C |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1445802934 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs1555482933 |
T>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1555483699 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs1555491538 |
->G |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555491648 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1555492758 |
T>C,G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555492769 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555493585 |
C>G,T |
Likely-pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs1555494676 |
AAG>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs1555494699 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555494781 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555496111 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1596471698 |
C>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant |
|
rs1596471934 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1596476657 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1596483044 |
G>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1596494610 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1596494684 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1596586969 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs1596587476 |
->GGACCGCGCC |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant |