rs118203989
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs118203989(C;T) |
| Make rs118203989(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 178456101 |
| Gene | DFNB59 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118203989 |
| dbSNP (classic) | rs118203989 |
| ClinGen | rs118203989 |
| ebi | rs118203989 |
| HLI | rs118203989 |
| Exac | rs118203989 |
| Gnomad | rs118203989 |
| Varsome | rs118203989 |
| LitVar | rs118203989 |
| Map | rs118203989 |
| PheGenI | rs118203989 |
| Biobank | rs118203989 |
| 1000 genomes | rs118203989 |
| hgdp | rs118203989 |
| ensembl | rs118203989 |
| geneview | rs118203989 |
| scholar | rs118203989 |
| rs118203989 | |
| pharmgkb | rs118203989 |
| gwascentral | rs118203989 |
| openSNP | rs118203989 |
| 23andMe | rs118203989 |
| SNPshot | rs118203989 |
| SNPdbe | rs118203989 |
| MSV3d | rs118203989 |
| GWAS Ctlg | rs118203989 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs118203989(G;G) rs118203989(T;T) |
| Alt | rs118203989(G;G) rs118203989(T;T) |
| Reference | Rs118203989(C;C) |
| Significance | Pathogenic |
| Disease | Deafness Nonsyndromic hearing loss and deafness |
| Variation | info |
| Gene | DFNB59 |
| CLNDBN | Deafness, autosomal recessive 59 Nonsyndromic hearing loss and deafness |
| Reversed | 0 |
| HGVS | NC_000002.11:g.179320828C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001363.2, RCV000223480.1, |
