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rs121964952

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964952(A;A)
Make rs121964952(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position186236819
GeneKLKB1
is asnp
is mentioned by
dbSNPrs121964952
ebirs121964952
HLIrs121964952
Exacrs121964952
Varsomers121964952
Maprs121964952
PheGenIrs121964952
hapmaprs121964952
1000 genomesrs121964952
hgdprs121964952
ensemblrs121964952
gopubmedrs121964952
geneviewrs121964952
scholarrs121964952
googlers121964952
pharmgkbrs121964952
gwascentralrs121964952
openSNPrs121964952
23andMers121964952
23andMe allrs121964952
SNP Nexus

SNPshotrs121964952
SNPdbers121964952
MSV3drs121964952
GWAS Ctlgrs121964952
Max Magnitude0
OMIM229000
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121964952(A,T;A,T)
Alt rs121964952(A,T;A,T)
Reference rs121964952(G;G)
Significance Pathogenic
Disease Prekallikrein deficiency
Variation info
Gene KLKB1
CLNDBN Prekallikrein deficiency
Reversed 0
HGVS NC_000004.11:g.187157973G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012816.22,