| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs139834687 |
C>A,T |
Pathogenic, likely-benign |
Stop gained, coding sequence variant, synonymous variant, non coding transcript variant |
| rs141576468 |
G>A |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
| rs143384152 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
| rs149688478 |
G>A |
Pathogenic |
Splice donor variant |
| rs375343753 |
G>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant |
| rs567175477 |
G>A |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs745858366 |
G>A |
Pathogenic, likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant |
| rs751291521 |
T>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs755744719 |
G>A,C,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, stop gained |
| rs766034355 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
| rs768528444 |
A>C,G |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant |
| rs772049150 |
C>T |
Likely-pathogenic |
Genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
| rs775269863 |
C>A,G,T |
Uncertain-significance, pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, missense variant |
| rs796051891 |
ATGCT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs796051893 |
G>A,T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant |
| rs796051894 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant |
| rs796051895 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant |
| rs796052095 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
| rs796052243 |
CAA>- |
Likely-pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, non coding transcript variant, inframe deletion |
| rs1064796791 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
| rs1166181741 |
G>A |
Likely-pathogenic |
Upstream transcript variant, splice donor variant, genic upstream transcript variant |
| rs1220351376 |
C>T |
Pathogenic |
Upstream transcript variant, non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant |
| rs1263369560 |
G>C |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
| rs1553934697 |
C>G |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant |
| rs1553955672 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs1553983667 |
C>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
| rs1560667008 |
GG>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
| rs1560786479 |
C>T |
Pathogenic |
Stop gained, genic upstream transcript variant, upstream transcript variant, non coding transcript variant, coding sequence variant |
| rs1560894236 |
->G |
Likely-pathogenic |
Splice donor variant, frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant |
| rs1578528119 |
->CA |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs1578557063 |
A>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs1578612173 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant |
| rs1578710903 |
G>A,T |
Uncertain-significance, pathogenic |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant |
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