rs72552780
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs72552780(A;A) |
Make rs72552780(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 87453050 |
Gene | ABCB4 |
is a | snp |
is | mentioned by |
dbSNP | rs72552780 |
dbSNP (classic) | rs72552780 |
ClinGen | rs72552780 |
ebi | rs72552780 |
HLI | rs72552780 |
Exac | rs72552780 |
Gnomad | rs72552780 |
Varsome | rs72552780 |
LitVar | rs72552780 |
Map | rs72552780 |
PheGenI | rs72552780 |
Biobank | rs72552780 |
1000 genomes | rs72552780 |
hgdp | rs72552780 |
ensembl | rs72552780 |
geneview | rs72552780 |
scholar | rs72552780 |
rs72552780 | |
pharmgkb | rs72552780 |
gwascentral | rs72552780 |
openSNP | rs72552780 |
23andMe | rs72552780 |
SNPshot | rs72552780 |
SNPdbe | rs72552780 |
MSV3d | rs72552780 |
GWAS Ctlg | rs72552780 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72552780(A;A) rs72552780(C;C) |
Alt | rs72552780(A;A) rs72552780(C;C) |
Reference | Rs72552780(G;G) |
Significance | Pathogenic |
Disease | Cholestasis |
Variation | info |
Gene | ABCB4 |
CLNDBN | Cholestasis, intrahepatic, of pregnancy 3 |
Reversed | 0 |
HGVS | NC_000007.13:g.87082366G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014695.20, |