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rs6003

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0
Make rs6003(A;A)
Make rs6003(A;G)
Make rs6003(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position197061891
GeneF13B
is asnp
is mentioned by
dbSNPrs6003
ebirs6003
HLIrs6003
Exacrs6003
Varsomers6003
Maprs6003
PheGenIrs6003
hapmaprs6003
1000 genomesrs6003
hgdprs6003
ensemblrs6003
gopubmedrs6003
geneviewrs6003
scholarrs6003
googlers6003
pharmgkbrs6003
gwascentralrs6003
openSNPrs6003
23andMers6003
23andMe allrs6003
SNP Nexus

SNPshotrs6003
SNPdbers6003
MSV3drs6003
GWAS Ctlgrs6003
GMAF0.1938
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene F13B
allele T
frequency 0.075
sift TOLERATED
HuRef 1103675303724
Disease Association Defects in F13B can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion.



OMIM134580
Desc
Variant0003
Relatedalso


ClinVar
Risk rs6003(A;A)
Alt rs6003(A;A)
Reference rs6003(G;G)
Significance Other
Disease Venous thrombosis
Variation info
Gene F13B
CLNDBN Venous thrombosis, susceptibility to
Reversed 1
HGVS NC_000001.10:g.197031021C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017984.2,



[PMID 15660291OA-icon.png] Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study.


[PMID 18541031OA-icon.png] The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration.


[PMID 18654799OA-icon.png] Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease.


[PMID 20021678OA-icon.png] Evaluation of self-reported ethnicity in a case-control population: the stroke prevention in young women study.


GET Evidence
F13B-R115H
aa_change Arg115His
aa_change_short R115H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.735453
summary



[PMID 23582991] Genetic Influences on the Outcome of Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-related Macular Degeneration