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, |
