rs75949023
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs75949023(G;T) |
| Make rs75949023(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 46524734 |
| Gene | LOXHD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75949023 |
| dbSNP (classic) | rs75949023 |
| ClinGen | rs75949023 |
| ebi | rs75949023 |
| HLI | rs75949023 |
| Exac | rs75949023 |
| Gnomad | rs75949023 |
| Varsome | rs75949023 |
| LitVar | rs75949023 |
| Map | rs75949023 |
| PheGenI | rs75949023 |
| Biobank | rs75949023 |
| 1000 genomes | rs75949023 |
| hgdp | rs75949023 |
| ensembl | rs75949023 |
| geneview | rs75949023 |
| scholar | rs75949023 |
| rs75949023 | |
| pharmgkb | rs75949023 |
| gwascentral | rs75949023 |
| openSNP | rs75949023 |
| 23andMe | rs75949023 |
| SNPshot | rs75949023 |
| SNPdbe | rs75949023 |
| MSV3d | rs75949023 |
| GWAS Ctlg | rs75949023 |
| GMAF | 0.02388 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs75949023(A;A) rs75949023(T;T) |
| Alt | rs75949023(A;A) rs75949023(T;T) |
| Reference | Rs75949023(G;G) |
| Significance | Pathogenic |
| Disease | Deafness Nonsyndromic hearing loss and deafness not specified not provided |
| Variation | info |
| Gene | LOXHD1 |
| CLNDBN | Deafness, autosomal recessive 77 Nonsyndromic hearing loss and deafness not specified not provided |
| Reversed | 0 |
| HGVS | NC_000018.9:g.44104697G>A; NC_000018.9:g.44104697G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023981.4, RCV000211793.1, RCV000225012.1, RCV000041212.5, RCV000420867.1, |
