rs1064793792

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	4.1	Hereditary angioedema, type I
(-;C)	3	Carrier of a mutation for hereditary angioedema
(C;C)	0	common in clinvar

Chromosome

11

Position

57606180

Gene

SERPING1

is a	snp
is	mentioned by
dbSNP	rs1064793792
dbSNP (classic)	rs1064793792
ClinGen	rs1064793792
ebi	rs1064793792
HLI	rs1064793792
Exac	rs1064793792
Gnomad	rs1064793792
Varsome	rs1064793792
LitVar	rs1064793792
Map	rs1064793792
PheGenI	rs1064793792
Biobank	rs1064793792
1000 genomes	rs1064793792
hgdp	rs1064793792
ensembl	rs1064793792
geneview	rs1064793792
scholar	rs1064793792
google	rs1064793792
pharmgkb	rs1064793792
gwascentral	rs1064793792
openSNP	rs1064793792
23andMe	rs1064793792
SNPshot	rs1064793792
SNPdbe	rs1064793792
MSV3d	rs1064793792
GWAS Ctlg	rs1064793792

Max Magnitude

4.1

NM_000062.2(SERPING1):c.856delC (p.Arg286Alafs)

ClinVar
Risk	Rs1064793792(-;-)
Alt	Rs1064793792(-;-)
Reference	Rs1064793792(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	SERPING1
CLNDBN	not provided
Reversed	0
HGVS	NC_000011.9:g.57373653delC
CLNSRC
CLNACC	RCV000482510.1,