| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs61752327 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, coding sequence variant, genic downstream transcript variant, 5 prime UTR variant, missense variant |
|
rs118161496 |
T>C |
Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic |
Intron variant, genic downstream transcript variant |
|
rs201430951 |
T>C |
Uncertain-significance, pathogenic, likely-pathogenic |
Synonymous variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, missense variant |
|
rs397515440 |
G>T |
Likely-pathogenic, pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant |
|
rs552722349 |
A>C,G |
Pathogenic |
Intron variant, missense variant, genic downstream transcript variant, synonymous variant, coding sequence variant |
|
rs751631278 |
G>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs767543623 |
C>G,T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, synonymous variant, coding sequence variant |
|
rs879255565 |
->CCTTGTGCTG |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, inframe indel, genic downstream transcript variant |
|
rs1431275151 |
->T |
Pathogenic |
Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555338209 |
C>T |
Likely-pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant, intron variant, genic downstream transcript variant |
|