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rs121907949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 4.1 Hereditary angioedema, type II
(T;T) 0 common in clinvar


Make rs121907949(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position57614439
GeneSERPING1
is asnp
is mentioned by
dbSNPrs121907949
dbSNP (classic)rs121907949
ClinGenrs121907949
ebirs121907949
HLIrs121907949
Exacrs121907949
Gnomadrs121907949
Varsomers121907949
LitVarrs121907949
Maprs121907949
PheGenIrs121907949
Biobankrs121907949
1000 genomesrs121907949
hgdprs121907949
ensemblrs121907949
geneviewrs121907949
scholarrs121907949
googlers121907949
pharmgkbrs121907949
gwascentralrs121907949
openSNPrs121907949
23andMers121907949
23andMe allrs121907949
SNPshotrs121907949
SNPdbers121907949
MSV3drs121907949
GWAS Ctlgrs121907949
Max Magnitude4.1

NM_000062.2(SERPING1):c.1361T>A (p.Val454Glu)

23andMe name: i6018432

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 UniProtKB (protein)
CLNACC RCV000004159.2,