rs886042562
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Chromosome | 7 |
Position | 87411984 |
Gene | ABCB4 |
is a | snp |
is | mentioned by |
dbSNP | rs886042562 |
dbSNP (classic) | rs886042562 |
ClinGen | rs886042562 |
ebi | rs886042562 |
HLI | rs886042562 |
Exac | rs886042562 |
Gnomad | rs886042562 |
Varsome | rs886042562 |
LitVar | rs886042562 |
Map | rs886042562 |
PheGenI | rs886042562 |
Biobank | rs886042562 |
1000 genomes | rs886042562 |
hgdp | rs886042562 |
ensembl | rs886042562 |
geneview | rs886042562 |
scholar | rs886042562 |
rs886042562 | |
pharmgkb | rs886042562 |
gwascentral | rs886042562 |
openSNP | rs886042562 |
23andMe | rs886042562 |
SNPshot | rs886042562 |
SNPdbe | rs886042562 |
MSV3d | rs886042562 |
GWAS Ctlg | rs886042562 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886042562(A;A) |
Alt | rs886042562(A;A) |
Reference | Rs886042562(G;G) |
Significance | Pathogenic |
Disease | Progressive familial intrahepatic cholestasis 3 |
Variation | info |
Gene | ABCB4 |
CLNDBN | Progressive familial intrahepatic cholestasis 3 |
Reversed | 0 |
HGVS | NC_000007.13:g.87041300G>A |
CLNSRC | |
CLNACC | RCV000330346.1, |