Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2458413
rs2458413
DPYS ; DCSTAMP
0.820 GeneticVariation BEFREE The product of the STMP1 gene has not been extensively studied, however the DCSTAMP gene has an established role in osteoclast differentiation and the associations seen between rs2458413 and PDB are likely mediated through regulatory effects on this gene. 30705363

2019
dbSNP: rs1561570
rs1561570
OPTN
0.820 GeneticVariation BEFREE In this study we have shown that rs1561570 may contribute to PDB since its T allele results in the loss of a methylation site in patients' DNA, leading to higher levels of OPTN gene expression and a corresponding increase in protein levels in patients' osteoclasts. 29782529

2018
dbSNP: rs1561570
rs1561570
OPTN
0.820 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: rs1561570
rs1561570
OPTN
T 0.820 GeneticVariation GWASDB Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375

2011
dbSNP: rs1561570
rs1561570
OPTN
T 0.820 GeneticVariation GWASCAT Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375

2011
dbSNP: rs2458413
rs2458413
DPYS ; DCSTAMP
0.820 GeneticVariation BEFREE Our data also confirmed the association of TM7SF4 (rs2458413, OR = 1.40, P = 7.38 × 10(-17)) with PDB. 21623375

2011
dbSNP: rs2458413
rs2458413
DPYS ; DCSTAMP
A 0.820 GeneticVariation GWASCAT Our data also confirmed the association of TM7SF4 (rs2458413, OR = 1.40, P = 7.38 × 10(-17)) with PDB. 21623375

2011
dbSNP: rs2458413
rs2458413
DPYS ; DCSTAMP
A 0.820 GeneticVariation GWASDB Our data also confirmed the association of TM7SF4 (rs2458413, OR = 1.40, P = 7.38 × 10(-17)) with PDB. 21623375

2011
dbSNP: rs1561570
rs1561570
OPTN
0.820 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: rs1561570
rs1561570
OPTN
0.820 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: rs2458413
rs2458413
DPYS ; DCSTAMP
0.820 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: rs10498635
rs10498635
RIN3
0.810 GeneticVariation BEFREE Previous genome-wide association studies identified a locus on chromosome 14q32 tagged by rs10498635 which was significantly associated with susceptibility to PDB in several European populations. 25701875

2015
dbSNP: rs10498635
rs10498635
RIN3
C 0.810 GeneticVariation GWASDB Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375

2011
dbSNP: rs10498635
rs10498635
RIN3
C 0.810 GeneticVariation GWASCAT Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375

2011
dbSNP: rs10498635
rs10498635
RIN3
0.810 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: 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: rs4294134
rs4294134
NUP205
G 0.800 GeneticVariation GWASCAT Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375

2011
dbSNP: rs4294134
rs4294134
NUP205
G 0.800 GeneticVariation GWASDB Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375

2011
dbSNP: rs5742915
rs5742915
PML
C 0.800 GeneticVariation GWASCAT Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375

2011
dbSNP: rs5742915
rs5742915
PML
C 0.800 GeneticVariation GWASDB Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375

2011
dbSNP: rs5910578
rs5910578
SLC25A43
C 0.800 GeneticVariation GWASDB Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375

2011
dbSNP: rs5910578
rs5910578
SLC25A43
C 0.800 GeneticVariation GWASCAT Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375

2011