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rs2230201

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) normal risk
(A;G) 1.4 1.4x risk of lupus
(G;G) 2 >1.4x risk of lupus
ReferenceGRCh38 38.1/141
Chromosome19
Position6713280
GeneC3
is asnp
is mentioned by
dbSNPrs2230201
dbSNP (old)rs2230201
ClinGenrs2230201
ebirs2230201
HLIrs2230201
Exacrs2230201
Gnomadrs2230201
Varsomers2230201
Maprs2230201
PheGenIrs2230201
Biobankrs2230201
1000 genomesrs2230201
hgdprs2230201
ensemblrs2230201
gopubmedrs2230201
geneviewrs2230201
scholarrs2230201
googlers2230201
pharmgkbrs2230201
gwascentralrs2230201
openSNPrs2230201
23andMers2230201
23andMe allrs2230201
SNP Nexus

SNPshotrs2230201
SNPdbers2230201
MSV3drs2230201
GWAS Ctlgrs2230201
GMAF0.2222
Max Magnitude2
? (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]

Neighborrs1047286
Distance29


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,