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rs121964951

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964951(A;A)
Make rs121964951(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position186257283
GeneKLKB1
is asnp
is mentioned by
dbSNPrs121964951
ebirs121964951
HLIrs121964951
Exacrs121964951
Varsomers121964951
Maprs121964951
PheGenIrs121964951
hapmaprs121964951
1000 genomesrs121964951
hgdprs121964951
ensemblrs121964951
gopubmedrs121964951
geneviewrs121964951
scholarrs121964951
googlers121964951
pharmgkbrs121964951
gwascentralrs121964951
openSNPrs121964951
23andMers121964951
23andMe allrs121964951
SNP Nexus

SNPshotrs121964951
SNPdbers121964951
MSV3drs121964951
GWAS Ctlgrs121964951
Max Magnitude0
OMIM229000
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121964951(A;A)
Alt rs121964951(A;A)
Reference rs121964951(G;G)
Significance Pathogenic
Disease Prekallikrein deficiency
Variation info
Gene KLKB1
CLNDBN Prekallikrein deficiency
Reversed 0
HGVS NC_000004.11:g.187178437G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012815.23,