rs3748079
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | normal risk | |
| (A;G) | normal risk | |
| (C;T) | 0 | |
| (G;G) | 0.1 | 1.9x increased risk for SLE (lupus) |
| (T;T) | 0 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 33620370 |
| Gene | ITPR3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3748079 |
| dbSNP (classic) | rs3748079 |
| ClinGen | rs3748079 |
| ebi | rs3748079 |
| HLI | rs3748079 |
| Exac | rs3748079 |
| Gnomad | rs3748079 |
| Varsome | rs3748079 |
| LitVar | rs3748079 |
| Map | rs3748079 |
| PheGenI | rs3748079 |
| Biobank | rs3748079 |
| 1000 genomes | rs3748079 |
| hgdp | rs3748079 |
| ensembl | rs3748079 |
| geneview | rs3748079 |
| scholar | rs3748079 |
| rs3748079 | |
| pharmgkb | rs3748079 |
| gwascentral | rs3748079 |
| openSNP | rs3748079 |
| 23andMe | rs3748079 |
| SNPshot | rs3748079 |
| SNPdbe | rs3748079 |
| MSV3d | rs3748079 |
| GWAS Ctlg | rs3748079 |
| GMAF | 0.1781 |
| Max Magnitude | 0.1 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs3748079 is a SNP in the promoter region of the ITPR3 gene; it is also known as -1990C>T.
rs3748079 has been linked to increased risk for systemic lupus erythematosus (SLE) in two independent Japanese case-control samples (p=0.0000000178 with odds ratio of 1.88, CI:1.51-2.35). Individuals with risk genotypes of both rs3748079 and rs3095870, in the ITPR3 and NKX2.5 genes, respectively, have even high risk for SLE (odds ratio 5.77).[PMID 18219441]
This particular SNP also revealed associations with rheumatoid arthritis (RA) (p=0.0084 with odds ratio of 1.23, CI:1.05-1.43) and with Graves' disease (GD) (p=0.00036 with odds ratio of 1.57, CI:1.22-2.02).[PMID 18219441]
Note that the orientation of this SNP as published is reversed compared to the dbSNP entry.
