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rs5985

From SNPedia

Orientationminus
Stabilizedminus
Make rs5985(G;G)
Make rs5985(G;T)
Make rs5985(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position6318562
GeneF13A1
is asnp
is mentioned by
dbSNPrs5985
ebirs5985
HLIrs5985
Exacrs5985
Varsomers5985
Maprs5985
PheGenIrs5985
hapmaprs5985
1000 genomesrs5985
hgdprs5985
ensemblrs5985
gopubmedrs5985
geneviewrs5985
scholarrs5985
googlers5985
pharmgkbrs5985
gwascentralrs5985
openSNPrs5985
23andMers5985
23andMe allrs5985
SNP Nexus

SNPshotrs5985
SNPdbers5985
MSV3drs5985
GWAS Ctlgrs5985
GMAF0.1566
Max Magnitude
? (G;G) (G;T) (T;T) 28
OMIM134570
Desc
Variant0010
Relatedalso


[PMID 21332313] Sequence variations in the FII, FV, F13A1, FGB and PAI-1 genes are associated with differences in myocardial perfusion


[PMID 21913742] Genetic predictors of response to photodynamictherapy


ClinVar
Risk rs5985(A,T;A,T)
Alt rs5985(A,T;A,T)
Reference rs5985(G;G)
Significance Other
Disease Myocardial infarction Venous thrombosis
Variation info
Gene F13A1
CLNDBN Myocardial infarction, protection against Venous thrombosis, protection against
Reversed 1
HGVS NC_000006.11:g.6318795C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017996.2, RCV000017997.2,



[PMID 16525568] Epistatic and pleiotropic effects of polymorphisms in the fibrinogen and coagulation factor XIII genes on plasma fibrinogen concentration, fibrin gel structure and risk of myocardial infarction.

[PMID 16681647OA-icon.png] Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway.

[PMID 17107626OA-icon.png] Comparison of PrASE and Pyrosequencing for SNP Genotyping.

[PMID 17241179] The association between fibrinogen haplotypes and myocardial infarction in men is partly mediated through pleiotropic effects on the serum IL-6 concentration.

[PMID 20031584OA-icon.png] Genetics of atherothrombotic and lacunar stroke.

[PMID 20532202OA-icon.png] Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.

[PMID 20887247] Pharmacogenetic aspects in therapeutic management of subfoveal choroidal neovascularisation: role of factor XIII-A 185 T-allele.

[PMID 21422408] Clotting factor gene polymorphisms and colorectal cancer risk.

[PMID 22267327] Fibrinogen and factor XIII A-subunit genotypes interactively influence C-reactive protein levels during inflammation.


GET Evidence
F13A1-V35L
aa_change Val35Leu
aa_change_short V35L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.227087
summary



[PMID 23381943OA-icon.png] Ischemic stroke is associated with the ABO locus: The EuroCLOT study


[PMID 22909824] Activity and levels of factor XIII in a Venezuelan admixed population: association with rs5985 (Val35Leu) and STR F13A01 polymorphisms.


[PMID 25862345] Genetic association between FXIII and β-fibrinogen genes and women with recurrent spontaneous abortion: a meta- analysis