Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10494112
rs10494112 		0.800 GeneticVariation GWASDB Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. 20436471

2010
dbSNP: rs10494112
rs10494112 		G 0.800 GeneticVariation GWASDB Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375

2011
dbSNP: rs10494112
rs10494112 		G 0.800 GeneticVariation GWASCAT Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375

2011
dbSNP: rs2957128
rs2957128 		A 0.800 GeneticVariation GWASCAT Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. 20436471

2010
dbSNP: rs2957128
rs2957128 		A 0.800 GeneticVariation GWASDB Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. 20436471

2010
dbSNP: rs3018362
rs3018362 		A 0.800 GeneticVariation GWASDB Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. 20436471

2010
dbSNP: rs3018362
rs3018362 		A 0.800 GeneticVariation GWASCAT Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. 20436471

2010
dbSNP: rs3018362
rs3018362 		A 0.800 GeneticVariation GWASDB Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375

2011
dbSNP: rs3018362
rs3018362 		A 0.800 GeneticVariation GWASCAT Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375

2011
dbSNP: rs484959
rs484959 		0.800 GeneticVariation GWASCAT Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. 20436471

2010
dbSNP: rs484959
rs484959 		0.800 GeneticVariation GWASDB Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. 20436471

2010
dbSNP: rs2980996
rs2980996 		0.700 GeneticVariation GWASDB Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. 20436471

2010
dbSNP: rs499345
rs499345 		0.700 GeneticVariation GWASDB Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. 20436471

2010
dbSNP: rs2095388
rs2095388 		0.010 GeneticVariation BEFREE More importantly, we replicated the strong and statistically significant genetic association of two SNPs of the OPTN gene, the rs1561570 (uncorrected P=5.7 × 10(-7)) and the rs2095388 (uncorrected P=4.9 × 10(-3)), with PDB. 22796589

2012
dbSNP: rs565070
rs565070 		0.010 GeneticVariation BEFREE Analyzing 9 tag SNPs and 2 multi-marker tests (MMTs) in TNFSF11, 3 tag SNPs and 1 MMT in VCP and 8 tag SNPs in IL-6 in a population of 196 Belgian patients with sporadic PDB and 212 Belgian control individuals revealed that one VCP SNP (rs565070) turned out to be associated with PDB in this Belgian study population (p=5.5×10(-3)). 21501964

2011
dbSNP: rs1130409
rs1130409
APEX1
0.010 GeneticVariation BEFREE Our results showed that carrying the allele T of XRCC1 rs1799782 polymorphism and the allele G of APEX rs1130409 polymorphism increased the risk of developing PDB. 29630930

2018
dbSNP: rs781049584
rs781049584
APP
0.010 GeneticVariation BEFREE Here we have tested ten major inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia-linked mutants for ATPase activity and found that all have increased activity over the wild type, with one mutant, p97(A232E), having three times higher activity. 22270372

2012
dbSNP: rs770237371
rs770237371
ASPSCR1
0.010 GeneticVariation BEFREE This stimulatory effect was lost when we used VCP mutants (R155H, R159G, and R191Q) known to cause Inclusion Body Myopathy with Paget's disease of bone and Fronto-temporal Dementia (IBMPFD) and/or familial Amyotrophic Lateral Sclerosis (ALS). 23349634

2013
dbSNP: rs1864183
rs1864183
ATG10
0.010 GeneticVariation BEFREE Our results show that being a carrier of the C allele of the ATG16L1 rs2241880 and the G allele of ATG5 rs2245214 polymorphisms were associated with an increased risk of developing PDB, whereas being a carrier of the T allele of ATG10 rs1864183 polymorphism decreased the risk of suffering the disease in our series. 26030385

2015
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.010 GeneticVariation BEFREE Our results show that being a carrier of the C allele of the ATG16L1 rs2241880 and the G allele of ATG5 rs2245214 polymorphisms were associated with an increased risk of developing PDB, whereas being a carrier of the T allele of ATG10 rs1864183 polymorphism decreased the risk of suffering the disease in our series. 26030385

2015
dbSNP: rs2245214
rs2245214
ATG5
0.010 GeneticVariation BEFREE We have studied the distribution of genotypes of the ATG2B rs3759601, ATG16L1 rs2241880, ATG10 rs1864183 and ATG5 rs2245214 polymorphisms in a Spanish cohort of subjects with PDB and compared with healthy subjects. 26030385

2015
dbSNP: rs267606673
rs267606673
ATP7A ; PGK1
0.010 GeneticVariation BEFREE Immunoprecipitation assays revealed an abnormal interaction between ATP7A(T994I) and p97/VCP, an ubiquitin-selective chaperone which is mutated in two autosomal dominant forms of motor neuron disease: amyotrophic lateral sclerosis and inclusion body myopathy with early-onset Paget disease and fronto-temporal dementia. 22210628

2012
dbSNP: rs1801725
rs1801725
CASR
0.010 GeneticVariation BEFREE Our results suggest that the ER alpha PvuII/XbaI and CaSR A986S polymorphisms may contribute to genetic susceptibility to Paget's disease. 14997007

2004
dbSNP: rs1569198
rs1569198
DKK1
0.010 GeneticVariation BEFREE In addition, a weak genetic association of a common variant of DKK1, rs1569198, which is located on a predicted new acceptor site for splicing of this gene, was observed in PDB, whereas no rare variant or genetic association was found in the SOST gene. 23836157

2013
dbSNP: rs149268042
rs149268042
DKK1 ; PRKG1-AS1
0.010 GeneticVariation BEFREE Three rare variants were identified in this study, all located in the DKK1 gene: one variant in the second exon leading to alteration in a highly conserved amino acid (p.R120L), one in the 5'-untranslated region (-50 C/A), and one in a splice site of intron 1 (IVS1 184 T/C), although none of these rare variants were associated with PDB. 23836157

2013