rs643788
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs643788(C;C) |
| Make rs643788(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 119097048 |
| Gene | DPAGT1, H2AFX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs643788 |
| dbSNP (classic) | rs643788 |
| ClinGen | rs643788 |
| ebi | rs643788 |
| HLI | rs643788 |
| Exac | rs643788 |
| Gnomad | rs643788 |
| Varsome | rs643788 |
| LitVar | rs643788 |
| Map | rs643788 |
| PheGenI | rs643788 |
| Biobank | rs643788 |
| 1000 genomes | rs643788 |
| hgdp | rs643788 |
| ensembl | rs643788 |
| geneview | rs643788 |
| scholar | rs643788 |
| rs643788 | |
| pharmgkb | rs643788 |
| gwascentral | rs643788 |
| openSNP | rs643788 |
| 23andMe | rs643788 |
| SNPshot | rs643788 |
| SNPdbe | rs643788 |
| MSV3d | rs643788 |
| GWAS Ctlg | rs643788 |
| GMAF | 0.4302 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[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 | rs643788(C;C) |
| Alt | rs643788(C;C) |
| Reference | Rs643788(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Acute intermittent porphyria Congenital disorder of glycosylation |
| Variation | info |
| Gene | H2AFX DPAGT1 |
| CLNDBN | not specified Acute intermittent porphyria Congenital disorder of glycosylation |
| Reversed | 0 |
| HGVS | NC_000011.9:g.118967758T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000079665.7, RCV000277995.1, RCV000354528.1, |
