rs28937588
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs28937588(A;A) |
| Make rs28937588(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 40819893 |
| Gene | KCNQ4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28937588 |
| dbSNP (classic) | rs28937588 |
| ClinGen | rs28937588 |
| ebi | rs28937588 |
| HLI | rs28937588 |
| Exac | rs28937588 |
| Gnomad | rs28937588 |
| Varsome | rs28937588 |
| LitVar | rs28937588 |
| Map | rs28937588 |
| PheGenI | rs28937588 |
| Biobank | rs28937588 |
| 1000 genomes | rs28937588 |
| hgdp | rs28937588 |
| ensembl | rs28937588 |
| geneview | rs28937588 |
| scholar | rs28937588 |
| rs28937588 | |
| pharmgkb | rs28937588 |
| gwascentral | rs28937588 |
| openSNP | rs28937588 |
| 23andMe | rs28937588 |
| SNPshot | rs28937588 |
| SNPdbe | rs28937588 |
| MSV3d | rs28937588 |
| GWAS Ctlg | rs28937588 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28937588(A;A) rs28937588(T;T) |
| Alt | rs28937588(A;A) rs28937588(T;T) |
| Reference | Rs28937588(G;G) |
| Significance | Pathogenic |
| Disease | DFNA 2 Nonsyndromic Hearing Loss Nonsyndromic hearing loss and deafness |
| Variation | info |
| Gene | KCNQ4 |
| CLNDBN | DFNA 2 Nonsyndromic Hearing Loss Nonsyndromic hearing loss and deafness |
| Reversed | 0 |
| HGVS | NC_000001.10:g.41285565G>A; NC_000001.10:g.41285565G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006619.7, RCV000211722.1, RCV000006622.3, |
[PMID 10025409] KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
[PMID 10369879] Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
