rs375916159
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs375916159(G;T) |
| Make rs375916159(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 14 |
| Position | 76482759 |
| Gene | ESRRB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs375916159 |
| dbSNP (classic) | rs375916159 |
| ClinGen | rs375916159 |
| ebi | rs375916159 |
| HLI | rs375916159 |
| Exac | rs375916159 |
| Gnomad | rs375916159 |
| Varsome | rs375916159 |
| LitVar | rs375916159 |
| Map | rs375916159 |
| PheGenI | rs375916159 |
| Biobank | rs375916159 |
| 1000 genomes | rs375916159 |
| hgdp | rs375916159 |
| ensembl | rs375916159 |
| geneview | rs375916159 |
| scholar | rs375916159 |
| rs375916159 | |
| pharmgkb | rs375916159 |
| gwascentral | rs375916159 |
| openSNP | rs375916159 |
| 23andMe | rs375916159 |
| SNPshot | rs375916159 |
| SNPdbe | rs375916159 |
| MSV3d | rs375916159 |
| GWAS Ctlg | rs375916159 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs375916159(A;A) rs375916159(T;T) |
| Alt | rs375916159(A;A) rs375916159(T;T) |
| Reference | Rs375916159(G;G) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | ESRRB |
| CLNDBN | Deafness, autosomal recessive 35 |
| Reversed | 0 |
| HGVS | NC_000014.8:g.76949102G>A |
| CLNSRC | |
| CLNACC | RCV000454210.1, |
