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rs745975

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs745975(A;A)
Make rs745975(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position44406053
GeneHNF4A
is asnp
is mentioned by
dbSNPrs745975
dbSNP (classic)rs745975
ClinGenrs745975
ebirs745975
HLIrs745975
Exacrs745975
Gnomadrs745975
Varsomers745975
LitVarrs745975
Maprs745975
PheGenIrs745975
Biobankrs745975
1000 genomesrs745975
hgdprs745975
ensemblrs745975
geneviewrs745975
scholarrs745975
googlers745975
pharmgkbrs745975
gwascentralrs745975
openSNPrs745975
23andMers745975
SNPshotrs745975
SNPdbers745975
MSV3drs745975
GWAS Ctlgrs745975
GMAF0.1896
Max Magnitude0
? (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 18340007OA-icon.png] Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia.


[PMID 18728231OA-icon.png] 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 25671620OA-icon.png] Hepatocyte Nuclear Factor 4 Alpha Polymorphisms and the Metabolic Syndrome in French-Canadian Youth