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rs186254196

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs186254196(A;A)
Make rs186254196(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position186252131
GeneKLKB1
is asnp
is mentioned by
dbSNPrs186254196
dbSNP (old)rs186254196
ClinGenrs186254196
ebirs186254196
HLIrs186254196
Exacrs186254196
Gnomadrs186254196
Varsomers186254196
LitVarrs186254196
Maprs186254196
PheGenIrs186254196
Biobankrs186254196
1000 genomesrs186254196
hgdprs186254196
ensemblrs186254196
gopubmedrs186254196
geneviewrs186254196
scholarrs186254196
googlers186254196
pharmgkbrs186254196
gwascentralrs186254196
openSNPrs186254196
23andMers186254196
23andMe allrs186254196
SNPshotrs186254196
SNPdbers186254196
MSV3drs186254196
GWAS Ctlgrs186254196
Max Magnitude0
ClinVar
Risk rs186254196(A;A)
Alt rs186254196(A;A)
Reference Rs186254196(G;G)
Significance Probable-Pathogenic
Disease Prekallikrein deficiency
Variation info
Gene KLKB1
CLNDBN Prekallikrein deficiency
Reversed 0
HGVS NC_000004.11:g.187173285G>A
CLNSRC
CLNACC RCV000490524.1,