rs1796993
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (G;G) | 0 |
| Make rs1796993(C;T) |
| Make rs1796993(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 72700522 |
| Gene | TMC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1796993 |
| dbSNP (classic) | rs1796993 |
| ClinGen | rs1796993 |
| ebi | rs1796993 |
| HLI | rs1796993 |
| Exac | rs1796993 |
| Gnomad | rs1796993 |
| Varsome | rs1796993 |
| LitVar | rs1796993 |
| Map | rs1796993 |
| PheGenI | rs1796993 |
| Biobank | rs1796993 |
| 1000 genomes | rs1796993 |
| hgdp | rs1796993 |
| ensembl | rs1796993 |
| geneview | rs1796993 |
| scholar | rs1796993 |
| rs1796993 | |
| pharmgkb | rs1796993 |
| gwascentral | rs1796993 |
| openSNP | rs1796993 |
| 23andMe | rs1796993 |
| SNPshot | rs1796993 |
| SNPdbe | rs1796993 |
| MSV3d | rs1796993 |
| GWAS Ctlg | rs1796993 |
| GMAF | 0.2746 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1796993(T;T) |
| Alt | rs1796993(T;T) |
| Reference | Rs1796993(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Nonsyndromic Hearing Loss Nonsyndromic Hearing Loss |
| Variation | info |
| Gene | TMC1 |
| CLNDBN | not specified Nonsyndromic Hearing Loss, Recessive Nonsyndromic Hearing Loss, Dominant |
| Reversed | 1 |
| HGVS | NC_000009.11:g.75315438G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000041139.3, RCV000314308.1, RCV000371206.1, |
[PMID 16134132
] Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.
