rs779748859
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs779748859(C;T) |
| Make rs779748859(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | X |
| Position | 108187279 |
| Gene | COL4A6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs779748859 |
| dbSNP (classic) | rs779748859 |
| ClinGen | rs779748859 |
| ebi | rs779748859 |
| HLI | rs779748859 |
| Exac | rs779748859 |
| Gnomad | rs779748859 |
| Varsome | rs779748859 |
| LitVar | rs779748859 |
| Map | rs779748859 |
| PheGenI | rs779748859 |
| Biobank | rs779748859 |
| 1000 genomes | rs779748859 |
| hgdp | rs779748859 |
| ensembl | rs779748859 |
| geneview | rs779748859 |
| scholar | rs779748859 |
| rs779748859 | |
| pharmgkb | rs779748859 |
| gwascentral | rs779748859 |
| openSNP | rs779748859 |
| 23andMe | rs779748859 |
| SNPshot | rs779748859 |
| SNPdbe | rs779748859 |
| MSV3d | rs779748859 |
| GWAS Ctlg | rs779748859 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs779748859(T;T) |
| Alt | rs779748859(T;T) |
| Reference | Rs779748859(C;C) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | COL4A6 |
| CLNDBN | Deafness, X-linked 6 |
| Reversed | 0 |
| HGVS | NC_000023.10:g.107430509C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000088659.2, |
