Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3087425
rs3087425
WRN
0.010 GeneticVariation BEFREE Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype. 28276523

2017

dbSNP: rs1346044
rs1346044
WRN
0.010 GeneticVariation BEFREE Association of the rs1346044 Polymorphism of the Werner Syndrome Gene RECQL2 with Increased Risk and Premature Onset of Breast Cancer. 26690424

2015

dbSNP: rs1304645785
rs1304645785
WRN
0.010 GeneticVariation BEFREE In this study, we have characterized the G574R missense mutation, which was recently identified in a WS patient. 23583337

2013

dbSNP: rs188554751
rs188554751
WRN
0.010 GeneticVariation BEFREE In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women. 19205873

2009

dbSNP: rs2230009
rs2230009
WRN
0.030 GeneticVariation BEFREE Five SNPs (α-ʟ-iduronidase rs3755955, C7orf58 rs190543052, homeobox C4 rs75256744, G patch domain-containing gene 1 rs2287679, and Werner syndrome rs2230009) showed a significant association (P < 0.05) with the prevalence of femoral fracture in 924 male subjects. 26462479

2016

dbSNP: rs2230009
rs2230009
WRN
0.030 GeneticVariation BEFREE A missense single nucleotide polymorphism, V114I of the Werner syndrome gene, is associated with risk of osteoporosis and femoral fracture in the Japanese population. 25637295

2015

dbSNP: rs2230009
rs2230009
WRN
0.030 GeneticVariation BEFREE Interestingly, a WRN cDNA expression vector bearing a valine at position 114 instead of isoleucine significantly affected cholesterol efflux in WS fibroblasts. 23523974

2013

dbSNP: rs17847577
rs17847577
WRN
T 0.700 CausalMutation CLINVAR Clinical utility gene card for: Werner Syndrome--Update 2014. 25182132

2015

dbSNP: rs17847577
rs17847577
WRN
T 0.700 CausalMutation CLINVAR Reprogramming suppresses premature senescence phenotypes of Werner syndrome cells and maintains chromosomal stability over long-term culture. 25390333

2014

dbSNP: rs763089663
rs763089663
WRN
T 0.700 CausalMutation CLINVAR WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. 20443122

2010

dbSNP: rs776785728
rs776785728
WRN
T 0.700 CausalMutation CLINVAR The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis. 18810497

2008

dbSNP: rs113993961
rs113993961
WRN
C 0.700 CausalMutation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs1281075870
rs1281075870
WRN
A 0.700 GeneticVariation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs143916053
rs143916053
WRN
T 0.700 CausalMutation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs1554519449
rs1554519449
WRN
A 0.700 GeneticVariation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs1563341296
rs1563341296
WRN
G 0.700 GeneticVariation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs1563376793
rs1563376793
WRN
C 0.700 GeneticVariation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs17847577
rs17847577
WRN
T 0.700 CausalMutation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs17847577
rs17847577
WRN
T 0.700 CausalMutation CLINVAR Werner syndrome and mutations of the WRN and LMNA genes in France. 16786514

2006

dbSNP: rs267607008
rs267607008
WRN
0.700 GeneticVariation UNIPROT The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs387906337
rs387906337
WRN
0.700 GeneticVariation UNIPROT The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs772319506
rs772319506
WRN
G 0.700 GeneticVariation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs777096501
rs777096501
WRN
A 0.700 GeneticVariation CLINVAR The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006

dbSNP: rs878854131
rs878854131
WRN
G 0.700 GeneticVariation CLINVAR Werner syndrome and mutations of the WRN and LMNA genes in France. 16786514

2006

dbSNP: rs878854131
rs878854131
WRN
G 0.700 CausalMutation CLINVAR Werner syndrome and mutations of the WRN and LMNA genes in France. 16786514

2006