rs2289116
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2289116(C;T) |
| Make rs2289116(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 16 |
| Position | 56904378 |
| Gene | MIR6863, SLC12A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2289116 |
| dbSNP (classic) | rs2289116 |
| ClinGen | rs2289116 |
| ebi | rs2289116 |
| HLI | rs2289116 |
| Exac | rs2289116 |
| Gnomad | rs2289116 |
| Varsome | rs2289116 |
| LitVar | rs2289116 |
| Map | rs2289116 |
| PheGenI | rs2289116 |
| Biobank | rs2289116 |
| 1000 genomes | rs2289116 |
| hgdp | rs2289116 |
| ensembl | rs2289116 |
| geneview | rs2289116 |
| scholar | rs2289116 |
| rs2289116 | |
| pharmgkb | rs2289116 |
| gwascentral | rs2289116 |
| openSNP | rs2289116 |
| 23andMe | rs2289116 |
| SNPshot | rs2289116 |
| SNPdbe | rs2289116 |
| MSV3d | rs2289116 |
| GWAS Ctlg | rs2289116 |
| GMAF | 0.1414 |
| Max Magnitude | 0 |
Associated with diabetic nephropathy and type-2 diabetes in a Japanese population.[PMID 17653210]
[PMID 20675610] The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor.
| ClinVar | |
|---|---|
| Risk | rs2289116(T;T) |
| Alt | rs2289116(T;T) |
| Reference | Rs2289116(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | SLC12A3 MIR6863 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000016.9:g.56938290G>A |
| CLNSRC | |
| CLNACC | RCV000242696.1, |
