rs1346044
| Orientation | plus |
| Stabilized | plus |
| Make rs1346044(C;C) |
| Make rs1346044(C;T) |
| Make rs1346044(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 31167138 |
| Gene | WRN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1346044 |
| dbSNP (classic) | rs1346044 |
| ClinGen | rs1346044 |
| ebi | rs1346044 |
| HLI | rs1346044 |
| Exac | rs1346044 |
| Gnomad | rs1346044 |
| Varsome | rs1346044 |
| LitVar | rs1346044 |
| Map | rs1346044 |
| PheGenI | rs1346044 |
| Biobank | rs1346044 |
| 1000 genomes | rs1346044 |
| hgdp | rs1346044 |
| ensembl | rs1346044 |
| geneview | rs1346044 |
| scholar | rs1346044 |
| rs1346044 | |
| pharmgkb | rs1346044 |
| gwascentral | rs1346044 |
| openSNP | rs1346044 |
| 23andMe | rs1346044 |
| SNPshot | rs1346044 |
| SNPdbe | rs1346044 |
| MSV3d | rs1346044 |
| GWAS Ctlg | rs1346044 |
| GMAF | 0.1827 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19282863] Association of candidate gene polymorphisms with chronic kidney disease in Japanese individuals with hypertension
[PMID 19945966] Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM
[PMID 16857995
] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
[PMID 18194558] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.
[PMID 18978339] Large-scale evaluation of candidate genes identifies associations between DNA repair and genomic maintenance and development of benzene hematotoxicity.
[PMID 23334603] Polymorphisms of the WRN gene and DNA damage of peripheral lymphocytes in age-related cataract in a Han Chinese population.
[PMID 24944800] WRN Cys1367Arg polymorphism is not associated with skull base chordoma
| ClinVar | |
|---|---|
| Risk | rs1346044(C;C) |
| Alt | rs1346044(C;C) |
| Reference | rs1346044(T;T) |
| Significance | Other |
| Disease | not specified Werner syndrome |
| Variation | info |
| Gene | WRN |
| CLNDBN | not specified Werner syndrome |
| Reversed | 0 |
| HGVS | NC_000008.10:g.31024654T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000118880.5, RCV000273969.1, |
[PMID 26690424] Association of the rs1346044 Polymorphism of the Werner Syndrome Gene RECQL2 with Increased Risk and Premature Onset of Breast Cancer.
[PMID 31333776] Associations of mRNA expression of DNA repair genes and genetic polymorphisms with cancer risk: a bioinformatics analysis and meta-analysis.
