rs754554
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs754554(A;A) |
| Make rs754554(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 24719199 |
| Gene | DFNA5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs754554 |
| dbSNP (classic) | rs754554 |
| ClinGen | rs754554 |
| ebi | rs754554 |
| HLI | rs754554 |
| Exac | rs754554 |
| Gnomad | rs754554 |
| Varsome | rs754554 |
| LitVar | rs754554 |
| Map | rs754554 |
| PheGenI | rs754554 |
| Biobank | rs754554 |
| 1000 genomes | rs754554 |
| hgdp | rs754554 |
| ensembl | rs754554 |
| geneview | rs754554 |
| scholar | rs754554 |
| rs754554 | |
| pharmgkb | rs754554 |
| gwascentral | rs754554 |
| openSNP | rs754554 |
| 23andMe | rs754554 |
| SNPshot | rs754554 |
| SNPdbe | rs754554 |
| MSV3d | rs754554 |
| GWAS Ctlg | rs754554 |
| GMAF | 0.242 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs754554(A;A) rs754554(G;G) |
| Alt | rs754554(A;A) rs754554(G;G) |
| Reference | Rs754554(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Nonsyndromic Hearing Loss |
| Variation | info |
| Gene | DFNA5 |
| CLNDBN | not specified Nonsyndromic Hearing Loss, Mixed |
| Reversed | 1 |
| HGVS | NC_000007.13:g.24758818G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000037974.2, RCV000279194.1, |
