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rs1800961

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs1800961(C;T)
Make rs1800961(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44413724
GeneHNF4A
is asnp
is mentioned by
dbSNPrs1800961
dbSNP (classic)rs1800961
ClinGenrs1800961
ebirs1800961
HLIrs1800961
Exacrs1800961
Gnomadrs1800961
Varsomers1800961
LitVarrs1800961
Maprs1800961
PheGenIrs1800961
Biobankrs1800961
1000 genomesrs1800961
hgdprs1800961
ensemblrs1800961
geneviewrs1800961
scholarrs1800961
googlers1800961
pharmgkbrs1800961
gwascentralrs1800961
openSNPrs1800961
23andMers1800961
SNPshotrs1800961
SNPdbers1800961
MSV3drs1800961
GWAS Ctlgrs1800961
GMAF0.02112
Max Magnitude0
? (C;C) (C;T) (T;T) 28


per the 23andMe blog, the minor allele of this SNP (T) was associated with decreased HDL cholesterol

SNP Rarer allele LDL HDL TG
rs6544713 T +
rs2650000 A +
rs471364 C -
rs1800961 T -
rs7679 C - +
rs2967605 T -
rs2409722 T -
rs10903129 A - - -
rs6756629 A - + -
rs12670798 C + + +
rs7395662 A - + +
rs174570 T - - +
rs2271293 A - + -
rs2624265 C +
rs2167079 T +
rs9891572 T +
rs4844614 T +
rs5031002 G +
GWAS snp
PMID [PMID 19060906OA-icon.png]
Trait HDL cholesterol
Title Common variants at 30 loci contribute to polygenic dyslipidemia
Risk Allele T
P-val 8E-10
Odds Ratio 0.19 [0.09-0.29] SD decrease


[PMID 19748811] Influence of hepatocyte nuclear factor 4alpha (HNF4alpha) gene variants on the risk of type 2 diabetes: A meta-analysis in 49,577 individuals


GWAS snp
PMID [PMID 21300955OA-icon.png]
Trait
Title Meta-Analysis of Genome-Wide Association Studies in >80 000 Subjects Identifies Multiple Loci for C-Reactive Protein Levels
Risk Allele C
P-val 2E-9
Odds Ratio 0.0880 [0.06-0.12] unit increase
GWAS snp
PMID [PMID 20686565OA-icon.png]
Trait
Title Biological, clinical and population relevance of 95 loci for blood lipids.
Risk Allele T
P-val 1E-15
Odds Ratio 1.8800 None


[PMID 16186411OA-icon.png] Variants in hepatocyte nuclear factor 4alpha are modestly associated with type 2 diabetes in Pima Indians.


[PMID 18660489] Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.


[PMID 19915572OA-icon.png] Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.


[PMID 19951432OA-icon.png] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.


[PMID 20385826OA-icon.png] Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).


GWAS snp
PMID [PMID 22939635OA-icon.png]
Trait C-reactive protein
Title Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.
Risk Allele T
P-val 8E-6
Odds Ratio .27 [0.15-0.39] (unit decrease)
GWAS snp
PMID [PMID 24097068OA-icon.png]
Trait Cholesterol, total
Title Discovery and refinement of loci associated with lipid levels.
Risk Allele T
P-val 1E-24
Odds Ratio .11 [NR] unit decrease


ClinVar
Risk rs1800961(T;T)
Alt rs1800961(T;T)
Reference Rs1800961(C;C)
Significance Other
Disease not specified Hyperinsulinism Maturity-onset diabetes of the young Monogenic diabetes
Variation info
Gene HNF4A
CLNDBN not specified Hyperinsulinism, Dominant Maturity-onset diabetes of the young Monogenic diabetes
Reversed 0
HGVS NC_000020.10:g.43042364C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000117238.3, RCV000280314.1, RCV000337755.1, RCV000445529.1,