rs72554640
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs72554640(C;T) |
| Make rs72554640(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | X |
| Position | 78011239 |
| Gene | ATP7A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72554640 |
| dbSNP (classic) | rs72554640 |
| ClinGen | rs72554640 |
| ebi | rs72554640 |
| HLI | rs72554640 |
| Exac | rs72554640 |
| Gnomad | rs72554640 |
| Varsome | rs72554640 |
| LitVar | rs72554640 |
| Map | rs72554640 |
| PheGenI | rs72554640 |
| Biobank | rs72554640 |
| 1000 genomes | rs72554640 |
| hgdp | rs72554640 |
| ensembl | rs72554640 |
| geneview | rs72554640 |
| scholar | rs72554640 |
| rs72554640 | |
| pharmgkb | rs72554640 |
| gwascentral | rs72554640 |
| openSNP | rs72554640 |
| 23andMe | rs72554640 |
| SNPshot | rs72554640 |
| SNPdbe | rs72554640 |
| MSV3d | rs72554640 |
| GWAS Ctlg | rs72554640 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72554640(T;T) |
| Alt | rs72554640(T;T) |
| Reference | Rs72554640(C;C) |
| Significance | Pathogenic |
| Disease | Menkes kinky-hair syndrome |
| Variation | info |
| Gene | ATP7A |
| CLNDBN | Menkes kinky-hair syndrome |
| Reversed | 0 |
| HGVS | NC_000023.10:g.77266736C>T |
| CLNSRC | |
| CLNACC | RCV000193235.1, |
