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rs2230009

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2230009(A;A)
Make rs2230009(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position31064419
GeneWRN
is asnp
is mentioned by
dbSNPrs2230009
dbSNP (classic)rs2230009
ClinGenrs2230009
ebirs2230009
HLIrs2230009
Exacrs2230009
Gnomadrs2230009
Varsomers2230009
LitVarrs2230009
Maprs2230009
PheGenIrs2230009
Biobankrs2230009
1000 genomesrs2230009
hgdprs2230009
ensemblrs2230009
geneviewrs2230009
scholarrs2230009
googlers2230009
pharmgkbrs2230009
gwascentralrs2230009
openSNPrs2230009
23andMers2230009
SNPshotrs2230009
SNPdbers2230009
MSV3drs2230009
GWAS Ctlgrs2230009
GMAF0.06382
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 19945966] Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM


[PMID 16857995OA-icon.png] 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 18978339OA-icon.png] 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,