Have questions? Visit https://www.reddit.com/r/SNPedia

rs121907948

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907948(A;A)
Make rs121907948(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position57614475
GeneSERPING1
is asnp
is mentioned by
dbSNPrs121907948
ebirs121907948
HLIrs121907948
Exacrs121907948
Varsomers121907948
Maprs121907948
PheGenIrs121907948
hapmaprs121907948
1000 genomesrs121907948
hgdprs121907948
ensemblrs121907948
gopubmedrs121907948
geneviewrs121907948
scholarrs121907948
googlers121907948
pharmgkbrs121907948
gwascentralrs121907948
openSNPrs121907948
23andMers121907948
23andMe allrs121907948
SNP Nexus

SNPshotrs121907948
SNPdbers121907948
MSV3drs121907948
GWAS Ctlgrs121907948
Max Magnitude0
OMIM606860
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121907948(A,T;A,T)
Alt rs121907948(A,T;A,T)
Reference rs121907948(G;G)
Significance Pathogenic
Disease Hereditary C1 esterase inhibitor deficiency - dysfunctional factor not provided
Variation info
Gene SERPING1
CLNDBN Hereditary C1 esterase inhibitor deficiency - dysfunctional factor not provided
Reversed 0
HGVS NC_000011.9:g.57381948G>A; NC_000011.9:g.57381948G>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000004152.2, RCV000059085.1,


[PMID 22994404] Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.