rs2230009

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
google	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,