rs606231141

Orientation

plus

Stabilized

plus

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

Make rs606231141(TGT;TGT)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

57614435

Gene

SERPING1

is a	snp
is	mentioned by
dbSNP	rs606231141
dbSNP (classic)	rs606231141
ClinGen	rs606231141
ebi	rs606231141
HLI	rs606231141
Exac	rs606231141
Gnomad	rs606231141
Varsome	rs606231141
LitVar	rs606231141
Map	rs606231141
PheGenI	rs606231141
Biobank	rs606231141
1000 genomes	rs606231141
hgdp	rs606231141
ensembl	rs606231141
geneview	rs606231141
scholar	rs606231141
google	rs606231141
pharmgkb	rs606231141
gwascentral	rs606231141
openSNP	rs606231141
23andMe	rs606231141
SNPshot	rs606231141
SNPdbe	rs606231141
MSV3d	rs606231141
GWAS Ctlg	rs606231141

Max Magnitude

4.1

NM_000062.2(SERPING1):c.1357_1358insTGT (p.Gly453delinsValTrp)

ClinVar
Risk	rs606231141(TGT;TGT)
Alt	rs606231141(TGT;TGT)
Reference	Rs606231141(-;-)
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.57381908_57381909insTGT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004160.2,