| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs58068378 |
C>T |
Conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, synonymous variant, intron variant, coding sequence variant |
|
rs112805221 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, intron variant, coding sequence variant |
|
rs113358058 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
|
rs121908462 |
C>A,T |
Pathogenic |
Synonymous variant, intron variant, coding sequence variant, splice donor variant, missense variant, 5 prime UTR variant |
|
rs121908463 |
T>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121908464 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs121908465 |
G>C |
Pathogenic |
Intron variant, coding sequence variant, 5 prime UTR variant, missense variant |
|
rs121908466 |
A>G |
Pathogenic |
Intron variant, coding sequence variant, 5 prime UTR variant, missense variant |
|
rs138344683 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, coding sequence variant, 5 prime UTR variant, missense variant |
|
rs142684762 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs146278035 |
C>T |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained, intron variant |
|
rs151020094 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs200241873 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant, 5 prime UTR variant |
|
rs368883473 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs532188689 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587776623 |
G>A,C |
Pathogenic |
Intron variant |
|
rs587776624 |
G>C |
Pathogenic |
Splice acceptor variant |
|
rs587776625 |
CAGGACC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587777312 |
CAACGGTTGCCAGGG>-,CAACGGTTGCCAGGGCAACGGTTGCCAGGG |
Pathogenic |
5 prime UTR variant, upstream transcript variant, genic upstream transcript variant, intron variant |
|
rs587783652 |
C>G,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs587783653 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs587783654 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783655 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
|
rs587783656 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs587783658 |
C>A,T |
Pathogenic |
Missense variant, intron variant, 5 prime UTR variant, coding sequence variant |
|
rs587783660 |
G>A |
Pathogenic |
Splice donor variant, intron variant |
|
rs727503955 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs762771228 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs763238723 |
T>A,C |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant, intron variant, missense variant |
|
rs768441855 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs780718243 |
C>G,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant, 5 prime UTR variant, intron variant |
|
rs786204777 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant, intron variant |
|
rs797045600 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs797045602 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1047016803 |
C>T |
Pathogenic |
Intron variant, stop gained, 5 prime UTR variant, coding sequence variant |
|
rs1057517949 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1367685651 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs1567782714 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1567815105 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1597442680 |
T>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant |