Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2230009
rs2230009
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		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
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		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
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		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