| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs17027133 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs62346982 |
T>G |
Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs79392371 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic upstream transcript variant, coding sequence variant |
|
rs114610541 |
A>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs116355217 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs138956153 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, synonymous variant |
|
rs140666848 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Missense variant, genic upstream transcript variant, coding sequence variant |
|
rs142598024 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, coding sequence variant |
|
rs143625481 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, coding sequence variant |
|
rs145709687 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs145812385 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic upstream transcript variant, coding sequence variant |
|
rs151286835 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs199469662 |
G>A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained |
|
rs199469663 |
A>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs199469664 |
C>A,T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained, missense variant |
|
rs200295901 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs201059532 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, synonymous variant |
|
rs727503779 |
CTCT>-,CT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs727503780 |
G>A,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant, genic upstream transcript variant |
|
rs745608560 |
C>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs762031957 |
G>C,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, synonymous variant |
|
rs779575307 |
G>A,C |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, missense variant |
|
rs1004337827 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1171694504 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant, stop gained |
|
rs1181595292 |
A>T |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs1192554889 |
G>C |
Likely-pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1206185362 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1264504989 |
->CATG |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1484948342 |
G>A,C |
Likely-pathogenic |
Stop gained, coding sequence variant, missense variant, genic upstream transcript variant |
|
rs1553956151 |
CAAG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs1553965868 |
AAGGAGAGGAG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs1553996145 |
A>C,G |
Likely-pathogenic |
Splice donor variant |
|
rs1553998602 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs1554020278 |
->TGTCTTCGCTAGC |
Pathogenic |
Stop gained, coding sequence variant, inframe indel, genic upstream transcript variant |
|
rs1560914625 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant |
|
rs1560938296 |
TC>CA |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant |
|
rs1561254290 |
CT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1578971328 |
G>A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained |
|
rs1578999313 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained |
|
rs1579059727 |
A>C |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs1580875488 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1580974401 |
ATAGA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581303476 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1581401865 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |