rs121907947

Orientation

plus

Stabilized

plus

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

Make rs121907947(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

57614450

Gene

SERPING1

is a	snp
is	mentioned by
dbSNP	rs121907947
dbSNP (classic)	rs121907947
ClinGen	rs121907947
ebi	rs121907947
HLI	rs121907947
Exac	rs121907947
Gnomad	rs121907947
Varsome	rs121907947
LitVar	rs121907947
Map	rs121907947
PheGenI	rs121907947
Biobank	rs121907947
1000 genomes	rs121907947
hgdp	rs121907947
ensembl	rs121907947
geneview	rs121907947
scholar	rs121907947
google	rs121907947
pharmgkb	rs121907947
gwascentral	rs121907947
openSNP	rs121907947
23andMe	rs121907947
SNPshot	rs121907947
SNPdbe	rs121907947
MSV3d	rs121907947
GWAS Ctlg	rs121907947

Max Magnitude

4.1

NM_000062.2(SERPING1):c.1372G>A (p.Ala458Thr)

23andMe name: i5000469

OMIM	606860
Desc
Variant	0002
Related	also

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 UniProtKB (protein)
CLNACC	RCV000004151.2,