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rs121918131

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918131(C;T)
Make rs121918131(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position186727258
GeneKNG1
is asnp
is mentioned by
dbSNPrs121918131
ebirs121918131
HLIrs121918131
Exacrs121918131
Varsomers121918131
Maprs121918131
PheGenIrs121918131
hapmaprs121918131
1000 genomesrs121918131
hgdprs121918131
ensemblrs121918131
gopubmedrs121918131
geneviewrs121918131
scholarrs121918131
googlers121918131
pharmgkbrs121918131
gwascentralrs121918131
openSNPrs121918131
23andMers121918131
23andMe allrs121918131
SNP Nexus

SNPshotrs121918131
SNPdbers121918131
MSV3drs121918131
GWAS Ctlgrs121918131
Max Magnitude0
OMIM612358
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918131(T;T)
Alt rs121918131(T;T)
Reference rs121918131(C;C)
Significance Pathogenic
Disease Kininogen deficiency
Variation info
Gene KNG1
CLNDBN Kininogen deficiency, total
Reversed 0
HGVS NC_000003.11:g.186445047C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000602.2,