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rs1801020

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 1 Normal risk of developing heart disease
(C;T) 1.5 1.31x increased risk of heart disease
(T;T) 1.5 1.31x increased risk of heart disease
ReferenceGRCh38 38.1/141
Chromosome5
Position177409531
GeneF12
is asnp
is mentioned by
dbSNPrs1801020
ebirs1801020
HLIrs1801020
Exacrs1801020
Varsomers1801020
Maprs1801020
PheGenIrs1801020
hapmaprs1801020
1000 genomesrs1801020
hgdprs1801020
ensemblrs1801020
gopubmedrs1801020
geneviewrs1801020
scholarrs1801020
googlers1801020
pharmgkbrs1801020
gwascentralrs1801020
openSNPrs1801020
23andMers1801020
23andMe allrs1801020
SNP Nexus

SNPshotrs1801020
SNPdbers1801020
MSV3drs1801020
GWAS Ctlgrs1801020
GMAF0.4201
Max Magnitude1.5
? (C;C) (C;T) (T;T) 28
Affects heart disease risk for both men and women, based on a study of two Finnish population cohorts (HR = 1.31 (1.08-1.60) for CVD, uncorrected p = 0.006 multiplicative model).[PMID 19874842OA-icon.png]

[PMID 21071604] A meta-analysis of publications through July 2009, totaling 4,386 cases (vs 40,089 controls) concluded that apart from a very weak association with myocardial infarction for the rs1801020 (T;T) + (C;T) compared with (C;C) genotype, (odds ratio 1.13, CI: 1.00 - 1.27), the evidence for an association between F12 -4C>T and venous thromboembolism and myocardial infarction was weak.


[PMID 19786295OA-icon.png] Combined cis-regulator elements as important mechanism affecting FXII plasma levels

OMIM610619
DescCOAGULATION FACTOR XII; F12
Variant
Relatedalso

[PMID 21071604] The Factor XII -4C>T Variant and Risk of Common Thrombotic Disorders: A HuGE Review and Meta-Analysis of Evidence From Observational Studies

OMIM188050
Desc
Variant
Relatedalso
OMIM610619
Desc
Variant0004
Relatedalso
[PMID 18974842OA-icon.png] Gender differences in genetic risk profiles for cardiovascular disease.


[PMID 19372376OA-icon.png] Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.


[PMID 19933701OA-icon.png] Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels.


[PMID 20346176OA-icon.png] The Mediterranean Sea as a barrier to gene flow: evidence from variation in and around the F7 and F12 genomic regions.


[PMID 22388798OA-icon.png] Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.


[PMID 23150947] Single nucleotide polymorphisms and the risk of venous thrombosis: results from a Danish case-cohort study


ClinVar
Risk rs1801020(C;C)
Alt rs1801020(C;C)
Reference rs1801020(T;T)
Significance Non-pathogenic
Disease FACTOR XII POLYMORPHISM
Variation info
Gene F12
CLNDBN FACTOR XII POLYMORPHISM
Reversed 1
HGVS NC_000005.9:g.176836532A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001226.3,



[PMID 26286125] Coagulation factor XII genetic variation, ex vivo thrombin generation, and stroke risk in the elderly: results from the Cardiovascular Health Study


[PMID 27656708] Genome-wide association reveals that common genetic variation in the kallikrein-kinin system is associated with serum L-arginine levels.