rs3740030
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs3740030(A;C) |
| Make rs3740030(C;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 89462530 |
| Gene | SLC16A12, SLC16A12-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3740030 |
| dbSNP (classic) | rs3740030 |
| ClinGen | rs3740030 |
| ebi | rs3740030 |
| HLI | rs3740030 |
| Exac | rs3740030 |
| Gnomad | rs3740030 |
| Varsome | rs3740030 |
| LitVar | rs3740030 |
| Map | rs3740030 |
| PheGenI | rs3740030 |
| Biobank | rs3740030 |
| 1000 genomes | rs3740030 |
| hgdp | rs3740030 |
| ensembl | rs3740030 |
| geneview | rs3740030 |
| scholar | rs3740030 |
| rs3740030 | |
| pharmgkb | rs3740030 |
| gwascentral | rs3740030 |
| openSNP | rs3740030 |
| 23andMe | rs3740030 |
| SNPshot | rs3740030 |
| SNPdbe | rs3740030 |
| MSV3d | rs3740030 |
| GWAS Ctlg | rs3740030 |
| GMAF | 0.08999 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 20181839
] Alterations of the 5'untranslated leader region of SLC16A12 lead to age-related cataract
[PMID 29088427] Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.
