rs2230201

minus

Geno	Mag	Summary
(A;A)		normal risk
(A;G)	1.4	1.4x risk of lupus
(G;G)	2	>1.4x risk of lupus

Reference

GRCh38 38.1/141

Chromosome

19

Position

6713280

Gene

C3

is a	snp
is	mentioned by
dbSNP	rs2230201
dbSNP (classic)	rs2230201
ClinGen	rs2230201
ebi	rs2230201
HLI	rs2230201
Exac	rs2230201
Gnomad	rs2230201
Varsome	rs2230201
LitVar	rs2230201
Map	rs2230201
PheGenI	rs2230201
Biobank	rs2230201
1000 genomes	rs2230201
hgdp	rs2230201
ensembl	rs2230201
geneview	rs2230201
scholar	rs2230201
google	rs2230201
pharmgkb	rs2230201
gwascentral	rs2230201
openSNP	rs2230201
23andMe	rs2230201
SNPshot	rs2230201
SNPdbe	rs2230201
MSV3d	rs2230201
GWAS Ctlg	rs2230201

GMAF

0.2222

Max Magnitude

2

?

(A;A) (A;G) (G;G)

28

In ~500 Japanese SLE patients, the (G) allele of rs2230201, a SNP in the C3 gene, is associated with higher risk for systemic lupus erythematosus (SLE). The odds ratio is 1.19 (CI: 1.01-1.41, p=0.038).[PMID 18174230]

ClinVar
Risk	Rs2230201(A;A) rs2230201(C;C)
Alt	Rs2230201(A;A) rs2230201(C;C)
Reference	Rs2230201(G;G)
Significance	Non-pathogenic
Disease	Macular degeneration C3 deficiency Atypical hemolytic uremic syndrome
Variation	info
Gene	C3
CLNDBN	Macular degeneration C3 deficiency Atypical hemolytic uremic syndrome
Reversed	1
HGVS	NC_000019.9:g.6713291C>T
CLNSRC
CLNACC	RCV000281695.1, RCV000336385.1, RCV000372395.1,