rs370965183
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs370965183(A;A) |
| Make rs370965183(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 78109284 |
| Gene | CIB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs370965183 |
| dbSNP (classic) | rs370965183 |
| ClinGen | rs370965183 |
| ebi | rs370965183 |
| HLI | rs370965183 |
| Exac | rs370965183 |
| Gnomad | rs370965183 |
| Varsome | rs370965183 |
| LitVar | rs370965183 |
| Map | rs370965183 |
| PheGenI | rs370965183 |
| Biobank | rs370965183 |
| 1000 genomes | rs370965183 |
| hgdp | rs370965183 |
| ensembl | rs370965183 |
| geneview | rs370965183 |
| scholar | rs370965183 |
| rs370965183 | |
| pharmgkb | rs370965183 |
| gwascentral | rs370965183 |
| openSNP | rs370965183 |
| 23andMe | rs370965183 |
| SNPshot | rs370965183 |
| SNPdbe | rs370965183 |
| MSV3d | rs370965183 |
| GWAS Ctlg | rs370965183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs370965183(A;A) rs370965183(C;C) |
| Alt | rs370965183(A;A) rs370965183(C;C) |
| Reference | Rs370965183(G;G) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | CIB2 |
| CLNDBN | Deafness, autosomal recessive 48 |
| Reversed | 0 |
| HGVS | NC_000015.9:g.78401626G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000032888.3, |
