rs121907948

Orientation

plus

Stabilized

plus

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

Make rs121907948(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

57614475

Gene

SERPING1

is a	snp
is	mentioned by
dbSNP	rs121907948
dbSNP (classic)	rs121907948
ClinGen	rs121907948
ebi	rs121907948
HLI	rs121907948
Exac	rs121907948
Gnomad	rs121907948
Varsome	rs121907948
LitVar	rs121907948
Map	rs121907948
PheGenI	rs121907948
Biobank	rs121907948
1000 genomes	rs121907948
hgdp	rs121907948
ensembl	rs121907948
geneview	rs121907948
scholar	rs121907948
google	rs121907948
pharmgkb	rs121907948
gwascentral	rs121907948
openSNP	rs121907948
23andMe	rs121907948
SNPshot	rs121907948
SNPdbe	rs121907948
MSV3d	rs121907948
GWAS Ctlg	rs121907948

Max Magnitude

4.1

NM_000062.2(SERPING1):c.1397G>C (p.Arg466Pro) and NM_000062.2(SERPING1):c.1397G>A (p.Arg466His)

23andMe name for c.1397G>A: i5000468

OMIM	606860
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121907948(A;A) rs121907948(C;C) rs121907948(T;T)
Alt	rs121907948(A;A) rs121907948(C;C) rs121907948(T;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>C; NC_000011.9:g.57381948G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000004152.2, RCV000433404.1, RCV000490187.1, RCV000059085.1,

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