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rs121964949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964949(C;T)
Make rs121964949(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186236789
GeneKLKB1
is asnp
is mentioned by
dbSNPrs121964949
ebirs121964949
HLIrs121964949
Exacrs121964949
Varsomers121964949
Maprs121964949
PheGenIrs121964949
hapmaprs121964949
1000 genomesrs121964949
hgdprs121964949
ensemblrs121964949
gopubmedrs121964949
geneviewrs121964949
scholarrs121964949
googlers121964949
pharmgkbrs121964949
gwascentralrs121964949
openSNPrs121964949
23andMers121964949
23andMe allrs121964949
SNP Nexus

SNPshotrs121964949
SNPdbers121964949
MSV3drs121964949
GWAS Ctlgrs121964949
Max Magnitude0
OMIM229000
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121964949(T;T)
Alt rs121964949(T;T)
Reference rs121964949(C;C)
Significance Pathogenic
Disease Prekallikrein deficiency
Variation info
Gene KLKB1
CLNDBN Prekallikrein deficiency
Reversed 0
HGVS NC_000004.11:g.187157943C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012813.16,