rs7951
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 1.4x risk of lupus | |
(T;T) | >1.4x risk of lupus |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 6681980 |
Gene | C3 |
is a | snp |
is | mentioned by |
dbSNP | rs7951 |
dbSNP (classic) | rs7951 |
ClinGen | rs7951 |
ebi | rs7951 |
HLI | rs7951 |
Exac | rs7951 |
Gnomad | rs7951 |
Varsome | rs7951 |
LitVar | rs7951 |
Map | rs7951 |
PheGenI | rs7951 |
Biobank | rs7951 |
1000 genomes | rs7951 |
hgdp | rs7951 |
ensembl | rs7951 |
geneview | rs7951 |
scholar | rs7951 |
rs7951 | |
pharmgkb | rs7951 |
gwascentral | rs7951 |
openSNP | rs7951 |
23andMe | rs7951 |
SNPshot | rs7951 |
SNPdbe | rs7951 |
MSV3d | rs7951 |
GWAS Ctlg | rs7951 |
GMAF | 0.08678 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
In ~500 Japanese SLE patients, the (T) allele of rs7951, a SNP in the C3 gene, is associated with higher risk for systemic lupus erythematosus (SLE). The odds ratio is 1.40 (CI: 1.05-1.86, p=0.016). The mean serum level of the C3 protein was lower in (C;T) and (T;T) genotypes than for individuals with (C;C) genotypes.[PMID 18174230]
ClinVar | |
---|---|
Risk | Rs7951(T;T) |
Alt | Rs7951(T;T) |
Reference | Rs7951(C;C) |
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.6681991G>A |
CLNSRC | |
CLNACC | RCV000288335.1, RCV000343346.1, RCV000397782.1, |