rs2227291
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2227291(C;C) |
| Make rs2227291(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 78013005 |
| Gene | ATP7A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2227291 |
| dbSNP (classic) | rs2227291 |
| ClinGen | rs2227291 |
| ebi | rs2227291 |
| HLI | rs2227291 |
| Exac | rs2227291 |
| Gnomad | rs2227291 |
| Varsome | rs2227291 |
| LitVar | rs2227291 |
| Map | rs2227291 |
| PheGenI | rs2227291 |
| Biobank | rs2227291 |
| 1000 genomes | rs2227291 |
| hgdp | rs2227291 |
| ensembl | rs2227291 |
| geneview | rs2227291 |
| scholar | rs2227291 |
| rs2227291 | |
| pharmgkb | rs2227291 |
| gwascentral | rs2227291 |
| openSNP | rs2227291 |
| 23andMe | rs2227291 |
| SNPshot | rs2227291 |
| SNPdbe | rs2227291 |
| MSV3d | rs2227291 |
| GWAS Ctlg | rs2227291 |
| GMAF | 0.2763 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 18339804
] X-inactivation in female human embryonic stem cells is in a nonrandom pattern and prone to epigenetic alterations.
| ClinVar | |
|---|---|
| Risk | rs2227291(C;C) |
| Alt | rs2227291(C;C) |
| Reference | Rs2227291(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | ATP7A |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000023.10:g.77268502G>C |
| CLNSRC | ClinVar Emory University GeneDx |
| CLNACC | RCV000078034.8, |
