rs121907950

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	4.1	Partial deficiency of complement component 4

Make rs121907950(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

57614472

Gene

SERPING1

is a	snp
is	mentioned by
dbSNP	rs121907950
dbSNP (classic)	rs121907950
ClinGen	rs121907950
ebi	rs121907950
HLI	rs121907950
Exac	rs121907950
Gnomad	rs121907950
Varsome	rs121907950
LitVar	rs121907950
Map	rs121907950
PheGenI	rs121907950
Biobank	rs121907950
1000 genomes	rs121907950
hgdp	rs121907950
ensembl	rs121907950
geneview	rs121907950
scholar	rs121907950
google	rs121907950
pharmgkb	rs121907950
gwascentral	rs121907950
openSNP	rs121907950
23andMe	rs121907950
SNPshot	rs121907950
SNPdbe	rs121907950
MSV3d	rs121907950
GWAS Ctlg	rs121907950

Max Magnitude

4.1

NM_000062.2(SERPING1):c.1394C>T (p.Ala465Val)

23andMe name: i5000466

OMIM	606860
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121907950(T;T)
Alt	rs121907950(T;T)
Reference	Rs121907950(C;C)
Significance	Pathogenic
Disease	Complement component 4
Variation	info
Gene	SERPING1
CLNDBN	Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor
Reversed	0
HGVS	NC_000011.9:g.57381945C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004161.2,