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rs5988

From SNPedia

Orientationminus
Stabilizedminus
Make rs5988(C;C)
Make rs5988(C;G)
Make rs5988(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position6151904
GeneF13A1
is asnp
is mentioned by
dbSNPrs5988
ebirs5988
HLIrs5988
Exacrs5988
Varsomers5988
Maprs5988
PheGenIrs5988
hapmaprs5988
1000 genomesrs5988
hgdprs5988
ensemblrs5988
gopubmedrs5988
geneviewrs5988
scholarrs5988
googlers5988
pharmgkbrs5988
gwascentralrs5988
openSNPrs5988
23andMers5988
23andMe allrs5988
SNP Nexus

SNPshotrs5988
SNPdbers5988
MSV3drs5988
GWAS Ctlgrs5988
GMAF0.1882
Max Magnitude
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene F13A1
allele G
frequency 0.225
sift TOLERATED
HuRef 1103652773022
Disease Association Defects in F13A1 are the cause of F13A deficiency (MIM:134570). F13A deficiency is an autosomal recessive disorder characterized by a life-long bleeding tendency, impaired wound healing and spontaneous abortion in affected women. In addition to the common presentation such as subcutaneous and intramuscular haematomas, severe bleeding such as intracranial hemorrhages may occur.



Neighborrs5987
Distance3
[PMID 19552680OA-icon.png] Common hemostasis and inflammation gene variants and venous thrombosis in older adults from the Cardiovascular Health Study.


GET Evidence
F13A1-E652Q
aa_change Glu652Gln
aa_change_short E652Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.217698
summary