rs113831133
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs113831133(A;A) |
| Make rs113831133(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 36461685 |
| Gene | CLDN14, LOC105369301 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113831133 |
| dbSNP (classic) | rs113831133 |
| ClinGen | rs113831133 |
| ebi | rs113831133 |
| HLI | rs113831133 |
| Exac | rs113831133 |
| Gnomad | rs113831133 |
| Varsome | rs113831133 |
| LitVar | rs113831133 |
| Map | rs113831133 |
| PheGenI | rs113831133 |
| Biobank | rs113831133 |
| 1000 genomes | rs113831133 |
| hgdp | rs113831133 |
| ensembl | rs113831133 |
| geneview | rs113831133 |
| scholar | rs113831133 |
| rs113831133 | |
| pharmgkb | rs113831133 |
| gwascentral | rs113831133 |
| openSNP | rs113831133 |
| 23andMe | rs113831133 |
| SNPshot | rs113831133 |
| SNPdbe | rs113831133 |
| MSV3d | rs113831133 |
| GWAS Ctlg | rs113831133 |
| GMAF | 0.0326 |
| Max Magnitude | 0 |
[PMID 23991001
] Frequency of Rare Allelic Variation in Candidate Genes among Individuals with Low and High Urinary Calcium Excretion
| ClinVar | |
|---|---|
| Risk | rs113831133(A;A) |
| Alt | rs113831133(A;A) |
| Reference | Rs113831133(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Nonsyndromic Hearing Loss |
| Variation | info |
| Gene | CLDN14 |
| CLNDBN | not specified Nonsyndromic Hearing Loss, Recessive |
| Reversed | 0 |
| HGVS | NC_000021.8:g.37833983G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000037059.3, RCV000290022.1, |
