rs72474224
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | Carrier of a recessive deafness mutation |
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a recessive deafness mutation |
| Make rs72474224(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 20189473 |
| Gene | GJB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72474224 |
| dbSNP (classic) | rs72474224 |
| ClinGen | rs72474224 |
| ebi | rs72474224 |
| HLI | rs72474224 |
| Exac | rs72474224 |
| Gnomad | rs72474224 |
| Varsome | rs72474224 |
| LitVar | rs72474224 |
| Map | rs72474224 |
| PheGenI | rs72474224 |
| Biobank | rs72474224 |
| 1000 genomes | rs72474224 |
| hgdp | rs72474224 |
| ensembl | rs72474224 |
| geneview | rs72474224 |
| scholar | rs72474224 |
| rs72474224 | |
| pharmgkb | rs72474224 |
| gwascentral | rs72474224 |
| openSNP | rs72474224 |
| 23andMe | rs72474224 |
| SNPshot | rs72474224 |
| SNPdbe | rs72474224 |
| MSV3d | rs72474224 |
| GWAS Ctlg | rs72474224 |
| GMAF | 0.01194 |
| Max Magnitude | 3 |
rs72474224 represents two variants at a position in the GJB2 gene on chromosome 13; they are c.109G>A (p.Val37Ile), for which the minor allele is rs72474224(T) in dbSNP/SNPedia orientation, and c.109G>T (p.Val37Phe), for which the minor allele is rs72474224(A) in dbSNP/SNPedia orientation.
Both minor allele are considered pathogenic in ClinVar and in the Deafness Variation Database (DVD) for recessively inherited forms of deafness.
| ClinVar | |
|---|---|
| Risk | rs72474224(A;A) rs72474224(T;T) |
| Alt | rs72474224(A;A) rs72474224(T;T) |
| Reference | Rs72474224(C;C) |
| Significance | Other |
| Disease | Nonsyndromic hearing loss and deafness Deafness not provided Hearing impairment |
| Variation | info |
| Gene | GJB2 |
| CLNDBN | Nonsyndromic hearing loss and deafness Deafness, autosomal recessive 1A not provided Hearing impairment |
| Reversed | 0 |
| HGVS | NC_000013.10:g.20763612C>A; NC_000013.10:g.20763612C>T |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000156043.1, RCV000018550.33, RCV000080365.4, RCV000146005.1, RCV000211759.1, |
[PMID 170419
] Murine xenotropic type C viruses I. Distribution and further characterization of the virus in NZB mice.
[PMID 9529365] Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
[PMID 10982180] Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
[PMID 12121355] Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.
[PMID 16840571] The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.
[PMID 17036313] V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.
[PMID 16380907] GJB2 mutations and degree of hearing loss: a multicenter study.
[PMID 17935238] M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
[PMID 26104599] A genetic coding variant rs72474224 in GJB2 is associated with clinical features of psoriasis vulgaris in a Chinese Han population
