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rs2259816

From SNPedia

Orientationminus
Stabilizedminus
Make rs2259816(A;A)
Make rs2259816(A;C)
Make rs2259816(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position120997784
GeneHNF1A
is asnp
is mentioned by
dbSNPrs2259816
ebirs2259816
HLIrs2259816
Exacrs2259816
Varsomers2259816
Maprs2259816
PheGenIrs2259816
hapmaprs2259816
1000 genomesrs2259816
hgdprs2259816
ensemblrs2259816
gopubmedrs2259816
geneviewrs2259816
scholarrs2259816
googlers2259816
pharmgkbrs2259816
gwascentralrs2259816
openSNPrs2259816
23andMers2259816
23andMe allrs2259816
SNP Nexus

SNPshotrs2259816
SNPdbers2259816
MSV3drs2259816
GWAS Ctlgrs2259816
GMAF0.3669
Max Magnitude
? (A;A) (A;C) (C;C) 28
GWAS snp
PMID [PMID 19198612OA-icon.png]
Trait Coronary artery disease
Title New susceptibility locus for coronary artery disease on chromosome 3q22.3
Risk Allele T
P-val 5E-7
Odds Ratio 1.08 [1.05-1.11]



[PMID 21062467OA-icon.png] Effect of the rs2259816 polymorphism in the HNF1A gene on circulating levels of C-reactive protein and coronary artery disease (The Ludwigshafen Risk and Cardiovascular Health Study)


[PMID 18439552OA-icon.png] Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.


[PMID 19956433OA-icon.png] Genetics of coronary artery disease: focus on genome-wide association studies.


[PMID 20835900OA-icon.png] Genetics of diabetes complications.


[PMID 21811992] [Association of single nucleotide polymorphism on chromosome 12q24.31 with susceptibility to coronary artery disease].


[PMID 22152955OA-icon.png] Genetic susceptibility to coronary heart disease in type 2 diabetes: 3 independent studies.


GET Evidence
rs2259816
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.31746
summary



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 3E-10
Odds Ratio .14 [0.092-0.190] unit increase


[PMID 24763700OA-icon.png] New Variants Including ARG1 Polymorphisms Associated with C-Reactive Protein Levels Identified by Genome-Wide Association and Pathway Analysis