rs56199535
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs56199535(C;T) |
Make rs56199535(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 99818820 |
Gene | ABCC2 |
is a | snp |
is | mentioned by |
dbSNP | rs56199535 |
dbSNP (classic) | rs56199535 |
ClinGen | rs56199535 |
ebi | rs56199535 |
HLI | rs56199535 |
Exac | rs56199535 |
Gnomad | rs56199535 |
Varsome | rs56199535 |
LitVar | rs56199535 |
Map | rs56199535 |
PheGenI | rs56199535 |
Biobank | rs56199535 |
1000 genomes | rs56199535 |
hgdp | rs56199535 |
ensembl | rs56199535 |
geneview | rs56199535 |
scholar | rs56199535 |
rs56199535 | |
pharmgkb | rs56199535 |
gwascentral | rs56199535 |
openSNP | rs56199535 |
23andMe | rs56199535 |
SNPshot | rs56199535 |
SNPdbe | rs56199535 |
MSV3d | rs56199535 |
GWAS Ctlg | rs56199535 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs56199535(A;A) rs56199535(G;G) rs56199535(T;T) |
Alt | rs56199535(A;A) rs56199535(G;G) rs56199535(T;T) |
Reference | Rs56199535(C;C) |
Significance | Pathogenic |
Disease | Dubin-Johnson syndrome |
Variation | info |
Gene | ABCC2 |
CLNDBN | Dubin-Johnson syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.101578577C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008923.5, |