rs2230009
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs2230009(A;A) |
Make rs2230009(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 31064419 |
Gene | WRN |
is a | snp |
is | mentioned by |
dbSNP | rs2230009 |
dbSNP (classic) | rs2230009 |
ClinGen | rs2230009 |
ebi | rs2230009 |
HLI | rs2230009 |
Exac | rs2230009 |
Gnomad | rs2230009 |
Varsome | rs2230009 |
LitVar | rs2230009 |
Map | rs2230009 |
PheGenI | rs2230009 |
Biobank | rs2230009 |
1000 genomes | rs2230009 |
hgdp | rs2230009 |
ensembl | rs2230009 |
geneview | rs2230009 |
scholar | rs2230009 |
rs2230009 | |
pharmgkb | rs2230009 |
gwascentral | rs2230009 |
openSNP | rs2230009 |
23andMe | rs2230009 |
SNPshot | rs2230009 |
SNPdbe | rs2230009 |
MSV3d | rs2230009 |
GWAS Ctlg | rs2230009 |
GMAF | 0.06382 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[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 17764108] Polymorphisms in DNA repair genes, ionizing radiation exposure and risk of breast cancer in U.S. Radiologic technologists.
[PMID 18978339] Large-scale evaluation of candidate genes identifies associations between DNA repair and genomic maintenance and development of benzene hematotoxicity.
[PMID 23523974] The non-synonymous polymorphism at position 114 of the WRN protein affects cholesterol efflux in vitro and correlates with cholesterol levels in vivo.
[PMID 25637295] A missense single nucleotide polymorphism, V114I of the Werner syndrome gene, is associated with risk of osteoporosis and femoral fracture in the Japanese population
ClinVar | |
---|---|
Risk | rs2230009(A;A) |
Alt | rs2230009(A;A) |
Reference | Rs2230009(G;G) |
Significance | Other |
Disease | not specified Werner syndrome |
Variation | info |
Gene | WRN |
CLNDBN | not specified Werner syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.30921935G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000118878.4, RCV000312662.1, |