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rs4220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs4220(A;A)
Make rs4220(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position154570607
GeneFGB
is asnp
is mentioned by
dbSNPrs4220
ebirs4220
HLIrs4220
Exacrs4220
Varsomers4220
Maprs4220
PheGenIrs4220
hapmaprs4220
1000 genomesrs4220
hgdprs4220
ensemblrs4220
gopubmedrs4220
geneviewrs4220
scholarrs4220
googlers4220
pharmgkbrs4220
gwascentralrs4220
openSNPrs4220
23andMers4220
23andMe allrs4220
SNP Nexus

SNPshotrs4220
SNPdbers4220
MSV3drs4220
GWAS Ctlgrs4220
GMAF0.1726
Max Magnitude0
? (A;A) (A;G) (G;G) 28

[PMID 20135074] A genetic variant in the gene encoding fibrinogen beta chain predicted development of hypertension in Chinese men


[PMID 20167083OA-icon.png] Fibrinogen beta variants confer protection against coronary artery disease in a Greek case-control study

OMIM134830
Desc
Variant0004
Relatedalso


ClinVar
Risk rs4220(A;A)
Alt rs4220(A;A)
Reference rs4220(G;G)
Significance Other
Disease FIBRINOGEN BALTIMORE 2
Variation info
Gene FGB
CLNDBN FIBRINOGEN BALTIMORE 2
Reversed 0
HGVS NC_000004.11:g.155491759G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017808.1,



[PMID 19064790OA-icon.png] Predictive genomics of cardioembolic stroke.


[PMID 20031577OA-icon.png] Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.


[PMID 20388367] [Polymorphisms of vascular diseases-related genes in Guangzhou Biobank Cohort Study].


[PMID 21258858] Genetic associations between fibrinogen and cognitive performance in three Scottish cohorts.


[PMID 22116284] A two-step genetic study on quantitative precursors of coronary artery disease in a homogeneous Indian population: case-control association discovery and validation by transmission-disequilibrium test.


[PMID 22273812OA-icon.png] Replication and characterisation of genetic variants in the fibrinogen gene cluster with plasma fibrinogen levels and haematological traits in the Third National Health and Nutrition Examination Survey.


GET Evidence
FGB-R419K
aa_change Arg419Lys
aa_change_short R419K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[PMID 23220916] Elevated fibrinogen levels are associated with risk of pulmonary embolism, but not with deep venous thrombosis.