rs745975
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs745975(A;A) |
Make rs745975(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 44406053 |
Gene | HNF4A |
is a | snp |
is | mentioned by |
dbSNP | rs745975 |
dbSNP (classic) | rs745975 |
ClinGen | rs745975 |
ebi | rs745975 |
HLI | rs745975 |
Exac | rs745975 |
Gnomad | rs745975 |
Varsome | rs745975 |
LitVar | rs745975 |
Map | rs745975 |
PheGenI | rs745975 |
Biobank | rs745975 |
1000 genomes | rs745975 |
hgdp | rs745975 |
ensembl | rs745975 |
geneview | rs745975 |
scholar | rs745975 |
rs745975 | |
pharmgkb | rs745975 |
gwascentral | rs745975 |
openSNP | rs745975 |
23andMe | rs745975 |
SNPshot | rs745975 |
SNPdbe | rs745975 |
MSV3d | rs745975 |
GWAS Ctlg | rs745975 |
GMAF | 0.1896 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 19406499] Interaction between HNF4A polymorphisms and physical activity in relation to type 2 diabetes-related traits: Results from the Quebec Family Study
[PMID 16883527] [Scanning the HNF4A gene mutation from Chinese pedigrees with early- and/or multiple-onset diabetes].
[PMID 18340007] Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia.
[PMID 18728231] Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies.
ClinVar | |
---|---|
Risk | rs745975(A;A) |
Alt | rs745975(A;A) |
Reference | Rs745975(G;G) |
Significance | Other |
Disease | not specified Hyperinsulinism Maturity-onset diabetes of the young |
Variation | info |
Gene | HNF4A |
CLNDBN | not specified Hyperinsulinism, Dominant Maturity-onset diabetes of the young |
Reversed | 1 |
HGVS | NC_000020.10:g.43034693C>T |
CLNSRC | ClinVar University of Chicago |
CLNACC | RCV000117237.3, RCV000268875.1, RCV000361090.1, |
[PMID 25671620] Hepatocyte Nuclear Factor 4 Alpha Polymorphisms and the Metabolic Syndrome in French-Canadian Youth