SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs17555442 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign |
Genic downstream transcript variant, coding sequence variant, synonymous variant |
rs80338806 |
AT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs80338807 |
G>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs80338808 |
C>G |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
rs104895500 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
rs116643915 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic upstream transcript variant, 5 prime UTR variant |
rs140249737 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, genic downstream transcript variant |
rs150022314 |
A>C,G |
Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
rs200648652 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs201325845 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
rs318240736 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs746626720 |
A>-,AA,AAAAAAAA |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Intron variant |
rs750126005 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
rs756933588 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs876660982 |
->ACAC |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs916009547 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
rs1175109245 |
G>A,T |
Pathogenic |
Intron variant, missense variant, stop gained, coding sequence variant |
rs1598522408 |
GCTGTTCCTTGCCACCCACCTGAAGGATTGAGCTTACTTGG>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant, genic downstream transcript variant, intron variant |