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.