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rs121907947

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907947(A;A)
Make rs121907947(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position57614450
GeneSERPING1
is asnp
is mentioned by
dbSNPrs121907947
ebirs121907947
HLIrs121907947
Exacrs121907947
Varsomers121907947
Maprs121907947
PheGenIrs121907947
hapmaprs121907947
1000 genomesrs121907947
hgdprs121907947
ensemblrs121907947
gopubmedrs121907947
geneviewrs121907947
scholarrs121907947
googlers121907947
pharmgkbrs121907947
gwascentralrs121907947
openSNPrs121907947
23andMers121907947
23andMe allrs121907947
SNP Nexus

SNPshotrs121907947
SNPdbers121907947
MSV3drs121907947
GWAS Ctlgrs121907947
Max Magnitude0
OMIM606860
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121907947(A;A)
Alt rs121907947(A;A)
Reference rs121907947(G;G)
Significance Pathogenic
Disease Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Variation info
Gene SERPING1
CLNDBN Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Reversed 0
HGVS NC_000011.9:g.57381923G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004151.2,