rs8551
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs8551(C;T) |
| Make rs8551(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 119096814 |
| Gene | DPAGT1, H2AFX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8551 |
| dbSNP (classic) | rs8551 |
| ClinGen | rs8551 |
| ebi | rs8551 |
| HLI | rs8551 |
| Exac | rs8551 |
| Gnomad | rs8551 |
| Varsome | rs8551 |
| LitVar | rs8551 |
| Map | rs8551 |
| PheGenI | rs8551 |
| Biobank | rs8551 |
| 1000 genomes | rs8551 |
| hgdp | rs8551 |
| ensembl | rs8551 |
| geneview | rs8551 |
| scholar | rs8551 |
| rs8551 | |
| pharmgkb | rs8551 |
| gwascentral | rs8551 |
| openSNP | rs8551 |
| 23andMe | rs8551 |
| SNPshot | rs8551 |
| SNPdbe | rs8551 |
| MSV3d | rs8551 |
| GWAS Ctlg | rs8551 |
| GMAF | 0.4284 |
| Max Magnitude | 0 |
[PMID 21512825] Possible association between genetic variants in the H2AFX promoter region and risk of adult glioma in a Chinese Han population
[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.
[PMID 18638378] Analysis of variants in DNA damage signalling genes in bladder cancer.
[PMID 24069324] Sex- and Subtype-Specific Analysis of H2AFX Polymorphisms in Non-Hodgkin Lymphoma
| ClinVar | |
|---|---|
| Risk | rs8551(T;T) |
| Alt | rs8551(T;T) |
| Reference | Rs8551(C;C) |
| Significance | Non-pathogenic |
| Disease | Acute intermittent porphyria Congenital disorder of glycosylation |
| Variation | info |
| Gene | H2AFX DPAGT1 |
| CLNDBN | Acute intermittent porphyria Congenital disorder of glycosylation |
| Reversed | 0 |
| HGVS | NC_000011.9:g.118967524C>T |
| CLNSRC | |
| CLNACC | RCV000313130.1, RCV000404523.1, |
