rs80358272
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80358272(-;-) |
| Make rs80358272(-;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 40784304 |
| Gene | KCNQ4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358272 |
| dbSNP (classic) | rs80358272 |
| ClinGen | rs80358272 |
| ebi | rs80358272 |
| HLI | rs80358272 |
| Exac | rs80358272 |
| Gnomad | rs80358272 |
| Varsome | rs80358272 |
| LitVar | rs80358272 |
| Map | rs80358272 |
| PheGenI | rs80358272 |
| Biobank | rs80358272 |
| 1000 genomes | rs80358272 |
| hgdp | rs80358272 |
| ensembl | rs80358272 |
| geneview | rs80358272 |
| scholar | rs80358272 |
| rs80358272 | |
| pharmgkb | rs80358272 |
| gwascentral | rs80358272 |
| openSNP | rs80358272 |
| 23andMe | rs80358272 |
| SNPshot | rs80358272 |
| SNPdbe | rs80358272 |
| MSV3d | rs80358272 |
| GWAS Ctlg | rs80358272 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80358272(-;-) |
| Alt | rs80358272(-;-) |
| Reference | Rs80358272(C;C) |
| Significance | Pathogenic |
| Disease | DFNA 2 Nonsyndromic Hearing Loss |
| Variation | info |
| Gene | KCNQ4 |
| CLNDBN | DFNA 2 Nonsyndromic Hearing Loss |
| Reversed | 0 |
| HGVS | NC_000001.10:g.41249976delC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006626.2, |
[PMID 16596322] A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
