rs121907951

Orientation

plus

Stabilized

plus

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

Make rs121907951(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

57602081

Gene

SERPING1

is a	snp
is	mentioned by
dbSNP	rs121907951
dbSNP (classic)	rs121907951
ClinGen	rs121907951
ebi	rs121907951
HLI	rs121907951
Exac	rs121907951
Gnomad	rs121907951
Varsome	rs121907951
LitVar	rs121907951
Map	rs121907951
PheGenI	rs121907951
Biobank	rs121907951
1000 genomes	rs121907951
hgdp	rs121907951
ensembl	rs121907951
geneview	rs121907951
scholar	rs121907951
google	rs121907951
pharmgkb	rs121907951
gwascentral	rs121907951
openSNP	rs121907951
23andMe	rs121907951
SNPshot	rs121907951
SNPdbe	rs121907951
MSV3d	rs121907951
GWAS Ctlg	rs121907951

Max Magnitude

4.1

NM_000062.2(SERPING1):c.597C>G (p.Tyr199Ter)

OMIM	606860
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121907951(G;G)
Alt	rs121907951(G;G)
Reference	Rs121907951(C;C)
Significance	Pathogenic
Disease	Hereditary angioedema type 1
Variation	info
Gene	SERPING1
CLNDBN	Hereditary angioedema type 1
Reversed	0
HGVS	NC_000011.9:g.57369554C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004163.3,