rs12968116
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common on affy axiom data |
Make rs12968116(C;T) |
Make rs12968116(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 57655270 |
Gene | ATP8B1, LOC100505549 |
is a | snp |
is | mentioned by |
dbSNP | rs12968116 |
dbSNP (classic) | rs12968116 |
ClinGen | rs12968116 |
ebi | rs12968116 |
HLI | rs12968116 |
Exac | rs12968116 |
Gnomad | rs12968116 |
Varsome | rs12968116 |
LitVar | rs12968116 |
Map | rs12968116 |
PheGenI | rs12968116 |
Biobank | rs12968116 |
1000 genomes | rs12968116 |
hgdp | rs12968116 |
ensembl | rs12968116 |
geneview | rs12968116 |
scholar | rs12968116 |
rs12968116 | |
pharmgkb | rs12968116 |
gwascentral | rs12968116 |
openSNP | rs12968116 |
23andMe | rs12968116 |
SNPshot | rs12968116 |
SNPdbe | rs12968116 |
MSV3d | rs12968116 |
GWAS Ctlg | rs12968116 |
GMAF | 0.05601 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
GWAS snp | |
---|---|
PMID | [PMID 22001757] |
Trait | |
Title | Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. |
Risk Allele | C |
P-val | 9E-10 |
Odds Ratio | 4.8000 None |
ClinVar | |
---|---|
Risk | rs12968116(T;T) |
Alt | rs12968116(T;T) |
Reference | Rs12968116(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Familial Intrahepatic Cholestasis |
Variation | info |
Gene | ATP8B1 LOC100505549 |
CLNDBN | not specified Familial Intrahepatic Cholestasis |
Reversed | 0 |
HGVS | NC_000018.9:g.55322502C>T |
CLNSRC | |
CLNACC | RCV000242349.2, RCV000361416.1, |