rs121918441
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918441(A;A) |
Make rs121918441(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 87439761 |
Gene | ABCB4 |
is a | snp |
is | mentioned by |
dbSNP | rs121918441 |
dbSNP (classic) | rs121918441 |
ClinGen | rs121918441 |
ebi | rs121918441 |
HLI | rs121918441 |
Exac | rs121918441 |
Gnomad | rs121918441 |
Varsome | rs121918441 |
LitVar | rs121918441 |
Map | rs121918441 |
PheGenI | rs121918441 |
Biobank | rs121918441 |
1000 genomes | rs121918441 |
hgdp | rs121918441 |
ensembl | rs121918441 |
geneview | rs121918441 |
scholar | rs121918441 |
rs121918441 | |
pharmgkb | rs121918441 |
gwascentral | rs121918441 |
openSNP | rs121918441 |
23andMe | rs121918441 |
SNPshot | rs121918441 |
SNPdbe | rs121918441 |
MSV3d | rs121918441 |
GWAS Ctlg | rs121918441 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918441(A;A) |
Alt | rs121918441(A;A) |
Reference | Rs121918441(C;C) |
Significance | Pathogenic |
Disease | Cholestasis |
Variation | info |
Gene | ABCB4 |
CLNDBN | Cholestasis, intrahepatic, of pregnancy 3 |
Reversed | 1 |
HGVS | NC_000007.13:g.87069077G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014687.20, |