rs781995242
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs781995242(A;A) |
| Make rs781995242(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | X |
| Position | 78029290 |
| Gene | ATP7A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs781995242 |
| dbSNP (classic) | rs781995242 |
| ClinGen | rs781995242 |
| ebi | rs781995242 |
| HLI | rs781995242 |
| Exac | rs781995242 |
| Gnomad | rs781995242 |
| Varsome | rs781995242 |
| LitVar | rs781995242 |
| Map | rs781995242 |
| PheGenI | rs781995242 |
| Biobank | rs781995242 |
| 1000 genomes | rs781995242 |
| hgdp | rs781995242 |
| ensembl | rs781995242 |
| geneview | rs781995242 |
| scholar | rs781995242 |
| rs781995242 | |
| pharmgkb | rs781995242 |
| gwascentral | rs781995242 |
| openSNP | rs781995242 |
| 23andMe | rs781995242 |
| SNPshot | rs781995242 |
| SNPdbe | rs781995242 |
| MSV3d | rs781995242 |
| GWAS Ctlg | rs781995242 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs781995242(A;A) |
| Alt | rs781995242(A;A) |
| Reference | Rs781995242(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | ATP7A |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.77284787G>A |
| CLNSRC | |
| CLNACC | RCV000235979.1, |
