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rs5987

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs5987(A;A)
Make rs5987(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position6151907
GeneF13A1
is asnp
is mentioned by
dbSNPrs5987
ebirs5987
HLIrs5987
Exacrs5987
Varsomers5987
Maprs5987
PheGenIrs5987
hapmaprs5987
1000 genomesrs5987
hgdprs5987
ensemblrs5987
gopubmedrs5987
geneviewrs5987
scholarrs5987
googlers5987
pharmgkbrs5987
gwascentralrs5987
openSNPrs5987
23andMers5987
23andMe allrs5987
SNP Nexus

SNPshotrs5987
SNPdbers5987
MSV3drs5987
GWAS Ctlgrs5987
GMAF0.06749
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene F13A1
allele T
frequency 0.05
sift TOLERATED
HuRef 1103652773023
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.



Neighborrs5988
Distance3


GET Evidence
F13A1-V651I
aa_change Val651Ile
aa_change_short V651I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0493586
summary