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rs121964950

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964950(A;A)
Make rs121964950(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position186252077
GeneKLKB1
is asnp
is mentioned by
dbSNPrs121964950
ebirs121964950
HLIrs121964950
Exacrs121964950
Varsomers121964950
Maprs121964950
PheGenIrs121964950
hapmaprs121964950
1000 genomesrs121964950
hgdprs121964950
ensemblrs121964950
gopubmedrs121964950
geneviewrs121964950
scholarrs121964950
googlers121964950
pharmgkbrs121964950
gwascentralrs121964950
openSNPrs121964950
23andMers121964950
23andMe allrs121964950
SNP Nexus

SNPshotrs121964950
SNPdbers121964950
MSV3drs121964950
GWAS Ctlgrs121964950
Max Magnitude0
OMIM229000
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121964950(A;A)
Alt rs121964950(A;A)
Reference rs121964950(G;G)
Significance Pathogenic
Disease Prekallikrein deficiency
Variation info
Gene KLKB1
CLNDBN Prekallikrein deficiency
Reversed 0
HGVS NC_000004.11:g.187173231G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012814.16,