rs7759
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs7759(A;G) |
| Make rs7759(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 119096581 |
| Gene | DPAGT1, H2AFX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7759 |
| dbSNP (classic) | rs7759 |
| ClinGen | rs7759 |
| ebi | rs7759 |
| HLI | rs7759 |
| Exac | rs7759 |
| Gnomad | rs7759 |
| Varsome | rs7759 |
| LitVar | rs7759 |
| Map | rs7759 |
| PheGenI | rs7759 |
| Biobank | rs7759 |
| 1000 genomes | rs7759 |
| hgdp | rs7759 |
| ensembl | rs7759 |
| geneview | rs7759 |
| scholar | rs7759 |
| rs7759 | |
| pharmgkb | rs7759 |
| gwascentral | rs7759 |
| openSNP | rs7759 |
| 23andMe | rs7759 |
| SNPshot | rs7759 |
| SNPdbe | rs7759 |
| MSV3d | rs7759 |
| GWAS Ctlg | rs7759 |
| GMAF | 0.3356 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 24069324
] Sex- and Subtype-Specific Analysis of H2AFX Polymorphisms in Non-Hodgkin Lymphoma
[PMID 17851762
] Genetic variants in the H2AFX promoter region are associated with risk of sporadic breast cancer in non-Hispanic white women aged <or=55 years.
| ClinVar | |
|---|---|
| Risk | rs7759(G;G) |
| Alt | rs7759(G;G) |
| Reference | Rs7759(A;A) |
| Significance | Non-pathogenic |
| Disease | Congenital disorder of glycosylation Acute intermittent porphyria |
| Variation | info |
| Gene | H2AFX DPAGT1 |
| CLNDBN | Congenital disorder of glycosylation Acute intermittent porphyria |
| Reversed | 0 |
| HGVS | NC_000011.9:g.118967291A>G |
| CLNSRC | |
| CLNACC | RCV000352190.1, RCV000357296.1, |
