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rs3733402

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs3733402(A;A)
Make rs3733402(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position186236880
GeneKLKB1
is asnp
is mentioned by
dbSNPrs3733402
ebirs3733402
HLIrs3733402
Exacrs3733402
Varsomers3733402
Maprs3733402
PheGenIrs3733402
hapmaprs3733402
1000 genomesrs3733402
hgdprs3733402
ensemblrs3733402
gopubmedrs3733402
geneviewrs3733402
scholarrs3733402
googlers3733402
pharmgkbrs3733402
gwascentralrs3733402
openSNPrs3733402
23andMers3733402
23andMe allrs3733402
SNP Nexus

SNPshotrs3733402
SNPdbers3733402
MSV3drs3733402
GWAS Ctlgrs3733402
GMAF0.3719
Max Magnitude0
OMIM229000
Desc
Variant0005
Relatedalso


ClinVar
Risk rs3733402(A;A)
Alt rs3733402(A;A)
Reference rs3733402(G;G)
Significance Pathogenic
Disease Prekallikrein deficiency
Variation info
Gene KLKB1
CLNDBN Prekallikrein deficiency
Reversed 0
HGVS NC_000004.11:g.187158034G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012817.25,



GET Evidence
KLKB1-S143N
aa_change Ser143Asn
aa_change_short S143N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.582636
summary



GWAS snp
PMID [PMID 23251661OA-icon.png]
Trait Obesity-related traits
Title Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
Risk Allele G
P-val 9E-8
Odds Ratio .04 [NR] ng/mL increase
GWAS snp
PMID [PMID 24625756OA-icon.png]
Trait Serum metabolite levels
Title Genetic determinants influencing human serum metabolome among African Americans.
Risk Allele A
P-val 9E-27
Odds Ratio .44 [NR] unit increase


[PMID 27656708] Genome-wide association reveals that common genetic variation in the kallikrein-kinin system is associated with serum L-arginine levels.