Rs104894819
From SNPedia
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894819 |
| PheGenI | rs104894819 |
| nextbio | rs104894819 |
| hapmap | rs104894819 |
| 1000 genomes | rs104894819 |
| hgdp | rs104894819 |
| ensembl | rs104894819 |
| gopubmed | rs104894819 |
| geneview | rs104894819 |
| scholar | rs104894819 |
| rs104894819 | |
| pharmgkb | rs104894819 |
| gwascentral | rs104894819 |
| openSNP | rs104894819 |
| 23andMe | rs104894819 |
| 23andMe all | rs104894819 |
| SNP Nexus | |
| SNPshot | rs104894819 |
| SNPdbe | rs104894819 |
| MSV3d | rs104894819 |
| Gene | GJB1 |
| Chromosome | X |
| Orientation | plus |
| Position | 70443751 |
| Reference | GRCh37 37.1/132 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs104894819(A;G) |
| Make rs104894819(G;G) |
| ClinVar | |
|---|---|
| Risk | rs104894819(G;G) |
| Normal | rs104894819(A;A) |
| Significance | 5 |
| Disease | X-linked hereditary motor and sensory neuropathy |
| ClinVar | info |
| Gene | GJB1 |
| CLNDBN | X-linked hereditary motor and sensory neuropathy |
| Reversed | 0 |
| CLNHGVS | NC_000023.10:g.70443751A>G |
| CLNSRC | OMIM Allelic Variant |