rs199700840
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs199700840(A;A) |
| Make rs199700840(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 16 |
| Position | 2497026 |
| Gene | TBC1D24 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199700840 |
| dbSNP (classic) | rs199700840 |
| ClinGen | rs199700840 |
| ebi | rs199700840 |
| HLI | rs199700840 |
| Exac | rs199700840 |
| Gnomad | rs199700840 |
| Varsome | rs199700840 |
| LitVar | rs199700840 |
| Map | rs199700840 |
| PheGenI | rs199700840 |
| Biobank | rs199700840 |
| 1000 genomes | rs199700840 |
| hgdp | rs199700840 |
| ensembl | rs199700840 |
| geneview | rs199700840 |
| scholar | rs199700840 |
| rs199700840 | |
| pharmgkb | rs199700840 |
| gwascentral | rs199700840 |
| openSNP | rs199700840 |
| 23andMe | rs199700840 |
| SNPshot | rs199700840 |
| SNPdbe | rs199700840 |
| MSV3d | rs199700840 |
| GWAS Ctlg | rs199700840 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199700840(A;A) rs199700840(C;C) |
| Alt | rs199700840(A;A) rs199700840(C;C) |
| Reference | Rs199700840(G;G) |
| Significance | Pathogenic |
| Disease | not specified Deafness |
| Variation | info |
| Gene | TBC1D24 |
| CLNDBN | not specified Deafness, autosomal recessive 86 |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2547027G>A; NC_000016.9:g.2547027G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000189706.3, RCV000087078.6, |
