rs28940870

plus

Geno	Mag	Summary
(A;A)	4	type II hereditary angioedema
(A;C)	4.1	Hereditary angioedema, type II
(C;C)	0	normal
(C;T)	4.1	Hereditary angioedema
(T;T)	4	type II hereditary angioedema

Reference

GRCh38 38.1/141

Chromosome

11

Position

57614474

Gene

SERPING1

is a	snp
is	mentioned by
dbSNP	rs28940870
dbSNP (classic)	rs28940870
ClinGen	rs28940870
ebi	rs28940870
HLI	rs28940870
Exac	rs28940870
Gnomad	rs28940870
Varsome	rs28940870
LitVar	rs28940870
Map	rs28940870
PheGenI	rs28940870
Biobank	rs28940870
1000 genomes	rs28940870
hgdp	rs28940870
ensembl	rs28940870
geneview	rs28940870
scholar	rs28940870
google	rs28940870
pharmgkb	rs28940870
gwascentral	rs28940870
openSNP	rs28940870
23andMe	rs28940870
SNPshot	rs28940870
SNPdbe	rs28940870
MSV3d	rs28940870
GWAS Ctlg	rs28940870

Max Magnitude

4.1

rs28940870 represents two dominant (though rare) mutations in the SERPING1 gene, resulting in type II hereditary angioedema. [PMID 3178731 ]

rs28940870(A) is also known as c.1396C>A, p.Arg466Ser, R466S, Arg444Ser and R444S; rs28940870(T) is also known as c.1396C>T, p.Arg466Cys, R466C, Arg444Cys and R444C.

23andMe name for c.1396C>A: i6018367

OMIM	606860
Desc	ANGIOEDEMA, HEREDITARY, TYPE II
Variant	0005
Related	also

OMIM	606860
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs28940870(A;A) Rs28940870(T;T)
Alt	Rs28940870(A;A) Rs28940870(T;T)
Reference	Rs28940870(C;C)
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.57381947C>A; NC_000011.9:g.57381947C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000004154.2, RCV000059083.1, RCV000004153.2, RCV000059084.1,

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