| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs35018134 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Coding sequence variant, synonymous variant |
|
rs35512910 |
C>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, genic upstream transcript variant, coding sequence variant, missense variant |
|
rs118204049 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs118204050 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs137907310 |
C>A,T |
Pathogenic-likely-pathogenic |
Splice donor variant |
|
rs140354725 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs140577908 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs140756827 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
|
rs144790966 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, missense variant, upstream transcript variant |
|
rs146793500 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs147919567 |
C>T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant |
|
rs150230201 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant |
|
rs151166497 |
G>A |
Benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs199794711 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs200179480 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, 5 prime UTR variant |
|
rs200832994 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant, 5 prime UTR variant |
|
rs201771769 |
C>G,T |
Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, genic downstream transcript variant |
|
rs370828455 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs370837940 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, synonymous variant, stop gained, genic downstream transcript variant |
|
rs387907057 |
G>A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs532292359 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, synonymous variant, 5 prime UTR variant |
|
rs545219731 |
C>T |
Likely-pathogenic |
Splice acceptor variant, genic upstream transcript variant |
|
rs558285072 |
G>A,C |
Likely-pathogenic, pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs746606852 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs752283089 |
G>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs753426920 |
A>- |
Pathogenic |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs760001730 |
A>C |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs760559263 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs761454264 |
AGAGGG>- |
Conflicting-interpretations-of-pathogenicity |
Inframe deletion, coding sequence variant |
|
rs763869212 |
C>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs767164213 |
A>C |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Splice donor variant |
|
rs768176054 |
A>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs768366199 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs769329153 |
T>C |
Likely-pathogenic |
Splice acceptor variant, genic upstream transcript variant |
|
rs771393692 |
G>- |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs771937001 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant |
|
rs774809466 |
G>A,T |
Pathogenic |
Stop gained, coding sequence variant, synonymous variant |
|
rs775709247 |
G>C |
Likely-pathogenic |
Intron variant, genic upstream transcript variant |
|
rs779242644 |
A>C,G |
Likely-pathogenic |
Splice donor variant |
|
rs868672014 |
T>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs869312914 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs878855011 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs878855013 |
C>- |
Likely-pathogenic, pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs935301743 |
C>T |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs941230062 |
G>A,C |
Likely-pathogenic |
Stop gained, missense variant, 5 prime UTR variant, coding sequence variant |
|
rs950356390 |
->GCCCTTC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs981804211 |
G>A,T |
Likely-pathogenic |
Upstream transcript variant, stop gained, coding sequence variant, synonymous variant, genic upstream transcript variant |
|
rs1049504575 |
A>T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1057518016 |
G>A |
Likely-pathogenic, pathogenic |
Upstream transcript variant, coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1131691949 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1177577061 |
C>T |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant |
|
rs1186788102 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1214483973 |
G>A |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, downstream transcript variant, stop gained |
|
rs1224762841 |
C>A |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs1470672632 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1555393005 |
A>G |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555393181 |
C>T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555393338 |
C>T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555393393 |
C>T |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1555394376 |
->A |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1555394824 |
->A |
Likely-pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1555395288 |
T>C |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1555395524 |
C>A |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555395525 |
C>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant, genic downstream transcript variant |
|
rs1555395560 |
T>C |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1555396303 |
C>A |
Likely-pathogenic |
Splice acceptor variant |
|
rs1555397310 |
C>G |
Likely-pathogenic |
Splice donor variant |
|
rs1555397331 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1555397638 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1555398241 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555398778 |
C>A |
Likely-pathogenic |
Splice donor variant |
|
rs1555399278 |
A>G |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant, upstream transcript variant |
|
rs1555399288 |
T>- |
Likely-pathogenic |
Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1555399289 |
AAC>- |
Likely-pathogenic |
Genic upstream transcript variant, upstream transcript variant, inframe deletion, coding sequence variant |
|
rs1566881181 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1566893090 |
->T |
Pathogenic |
Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant |
|
rs1594898627 |
C>T |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1594900921 |
C>T |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1594906944 |
TG>- |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1594910045 |
G>C |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1594912625 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1594913346 |
A>C |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1594930532 |
G>A |
Pathogenic |
Upstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant |
|
rs1594937657 |
T>C |
Likely-pathogenic |
Splice acceptor variant, genic upstream transcript variant |
|
rs1594938339 |
A>C |
Pathogenic |
5 prime UTR variant, genic upstream transcript variant, stop gained, coding sequence variant |