rs149258390
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs149258390(C;T) |
| Make rs149258390(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 65308634 |
| Gene | MSRB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs149258390 |
| dbSNP (classic) | rs149258390 |
| ClinGen | rs149258390 |
| ebi | rs149258390 |
| HLI | rs149258390 |
| Exac | rs149258390 |
| Gnomad | rs149258390 |
| Varsome | rs149258390 |
| LitVar | rs149258390 |
| Map | rs149258390 |
| PheGenI | rs149258390 |
| Biobank | rs149258390 |
| 1000 genomes | rs149258390 |
| hgdp | rs149258390 |
| ensembl | rs149258390 |
| geneview | rs149258390 |
| scholar | rs149258390 |
| rs149258390 | |
| pharmgkb | rs149258390 |
| gwascentral | rs149258390 |
| openSNP | rs149258390 |
| 23andMe | rs149258390 |
| SNPshot | rs149258390 |
| SNPdbe | rs149258390 |
| MSV3d | rs149258390 |
| GWAS Ctlg | rs149258390 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs149258390(A;A) rs149258390(T;T) |
| Alt | rs149258390(A;A) rs149258390(T;T) |
| Reference | Rs149258390(C;C) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | MSRB3 |
| CLNDBN | Deafness, autosomal recessive 74 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.65702414C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000024050.2, |
