rs121907949

Orientation

plus

Stabilized

plus

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

Make rs121907949(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

57614439

Gene

SERPING1

is a	snp
is	mentioned by
dbSNP	rs121907949
dbSNP (classic)	rs121907949
ClinGen	rs121907949
ebi	rs121907949
HLI	rs121907949
Exac	rs121907949
Gnomad	rs121907949
Varsome	rs121907949
LitVar	rs121907949
Map	rs121907949
PheGenI	rs121907949
Biobank	rs121907949
1000 genomes	rs121907949
hgdp	rs121907949
ensembl	rs121907949
geneview	rs121907949
scholar	rs121907949
google	rs121907949
pharmgkb	rs121907949
gwascentral	rs121907949
openSNP	rs121907949
23andMe	rs121907949
SNPshot	rs121907949
SNPdbe	rs121907949
MSV3d	rs121907949
GWAS Ctlg	rs121907949

Max Magnitude

4.1

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

23andMe name: i6018432

OMIM	606860
Desc
Variant	0010
Related	also

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,