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rs121907949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121907949(A;A)
Make rs121907949(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position57614439
GeneSERPING1
is asnp
is mentioned by
dbSNPrs121907949
ebirs121907949
HLIrs121907949
Exacrs121907949
Varsomers121907949
Maprs121907949
PheGenIrs121907949
hapmaprs121907949
1000 genomesrs121907949
hgdprs121907949
ensemblrs121907949
gopubmedrs121907949
geneviewrs121907949
scholarrs121907949
googlers121907949
pharmgkbrs121907949
gwascentralrs121907949
openSNPrs121907949
23andMers121907949
23andMe allrs121907949
SNP Nexus

SNPshotrs121907949
SNPdbers121907949
MSV3drs121907949
GWAS Ctlgrs121907949
Max Magnitude0
OMIM606860
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121907949(A;A)
Alt rs121907949(A;A)
Reference rs121907949(T;T)
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.57381912T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004159.2,