rs2230201
From SNPedia
Orientation | minus |
Stabilized | 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 |
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, |