Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10085588
rs10085588
0.010 GeneticVariation BEFREE Eight selected variants were tested for association in the complete cohort and 2 of them (rs4342521 and rs10085588) were found significantly associated with lumbar spine BMD and nominally associated with osteoporotic fracture. cis-eQTL analyses of these 2 SNPs, together with SNP rs4727338 (GWAS lead SNP in Estrada et al., Nat Genet. 30878523

2019

dbSNP: rs1800012
rs1800012
0.010 GeneticVariation BEFREE Over the past two decades, a low frequency variant (rs1800012) within the first intron of the type I collagen alpha 1 (COLIA1) gene has been implicated in lower areal BMD (aBMD) and increased risk of osteoporotic fracture. 30711642

2019

dbSNP: rs270611
rs270611
0.010 GeneticVariation BEFREE Our study provides supportive evidence for the contribution of <i>PDLIM4</i> gene polymorphisms to the susceptibility to osteoporotic fracture and suggests that rs270611 and rs3900945 are genetic risk factors, while rs366512 might be a genetic protective factor against osteoporotic fracture in elderly Han individuals. 30578378

2019

dbSNP: rs2908004
rs2908004
0.010 GeneticVariation BEFREE The main finding was that of significant differences in the polymorphisms of the WNT16 rs2908004 genetic variant, notably, the less frequent presence of TC allele in women with a greater risk of osteoporotic fractures. 31309515

2019

dbSNP: rs366512
rs366512
0.010 GeneticVariation BEFREE Our study provides supportive evidence for the contribution of <i>PDLIM4</i> gene polymorphisms to the susceptibility to osteoporotic fracture and suggests that rs270611 and rs3900945 are genetic risk factors, while rs366512 might be a genetic protective factor against osteoporotic fracture in elderly Han individuals. 30578378

2019

dbSNP: rs3900945
rs3900945
0.010 GeneticVariation BEFREE Our study provides supportive evidence for the contribution of <i>PDLIM4</i> gene polymorphisms to the susceptibility to osteoporotic fracture and suggests that rs270611 and rs3900945 are genetic risk factors, while rs366512 might be a genetic protective factor against osteoporotic fracture in elderly Han individuals. 30578378

2019

dbSNP: rs3917
rs3917
0.010 GeneticVariation BEFREE The findings showed rs3917 polymorphism interfered with the interaction between COL1A2 mRNA and miR-382, and minor allele is associated with a reduced risk of osteoporotic fracture. 30825231

2019

dbSNP: rs4342521
rs4342521
0.010 GeneticVariation BEFREE Eight selected variants were tested for association in the complete cohort and 2 of them (rs4342521 and rs10085588) were found significantly associated with lumbar spine BMD and nominally associated with osteoporotic fracture. cis-eQTL analyses of these 2 SNPs, together with SNP rs4727338 (GWAS lead SNP in Estrada et al., Nat Genet. 30878523

2019

dbSNP: rs6831280
rs6831280
0.010 GeneticVariation BEFREE <i>IDUA</i> rs6831280 is associated with BMDs at L2-4 and TH in the elderly Chinese population with SOP and may serve as a marker for the genetic susceptibility to osteoporotic fractures. 31275456

2019

dbSNP: rs1800544
rs1800544
0.010 GeneticVariation BEFREE The present study aimed to investigate the association of rs1800544 polymorphism of α2A-AR gene with BMD and BTMs in the Chinese elderly population with osteoporosis (OP) or with osteoporotic fractures. 30033441

2018

dbSNP: rs3102735
rs3102735
0.010 GeneticVariation BEFREE Among the nine SNPs genotyped, rs6469804 and rs2073618 showed significant associations with both BMD and osteoporotic fractures, while rs3102735 was only associated with BMD in our samples (P < 0.05). 28496203

2017

dbSNP: rs1982073
rs1982073
0.010 GeneticVariation BEFREE Disease-stratified results yielded that rs1982073 C>T may increase the risk of fracture, OP, and OA under the allele model, but was only significantly related to OP under the dominant model. 25501632

2016

dbSNP: rs758488397
rs758488397
0.010 GeneticVariation BEFREE Both variants associate with low BMD and with osteoporotic fractures. p.Gly496Ala (frequency of 0.105%) shows the strongest association with low BMD at the spine (p = 1.8 × 10(-7) , odds ratio [OR] = 4.61 [95% confidence interval (CI) 2.59, 8.18]), whereas p.Gly703Ser (frequency of 0.050%) is most strongly associated with low BMD at the hip (p = 1.9 × 10(-8) , OR = 9.34 [95% CI 4.28, 20.3]). 26235824

2016

dbSNP: rs3134069
rs3134069
0.010 GeneticVariation BEFREE We identified the T245G (rs3134069) polymorphism in the TNFRSF11B gene associated with osteoporotic fractures (vertebral fractures: p = 0.0320; non-vertebral fractures: p = 0.0005; all fractures: 0.0000). 25323794

2015

dbSNP: rs4986791
rs4986791
0.010 GeneticVariation BEFREE To examine the frequency of TLR4 C1196T genotypes in postmenopausal osteoporotic and non-osteoporotic Polish women and to investigate the possible relationship between C1196T polymorphism, bone mineral density (BMD) and the incidence of osteoporotic fractures in this group of patients. 25931355

2015

dbSNP: rs587777005
rs587777005
0.010 GeneticVariation BEFREE Through whole-genome sequencing of Icelandic individuals, we found a rare nonsense mutation within the leucine-rich-repeat-containing G-protein-coupled receptor 4 (LGR4) gene (c.376C>T) that is strongly associated with low BMD, and with osteoporotic fractures. 23644456

2013

dbSNP: rs7570532
rs7570532
0.010 GeneticVariation BEFREE In the DOPS, individuals homozygous for the variant allele of the MSTN SNP rs7570532 had an increased risk of any osteoporotic fracture, with an HR of 1.82 (95 % CI 1.15-2.90, p = 0.01), and of nonvertebral osteoporotic fracture, with an HR of 2.02 (95 % CI 1.20-3.41, p = 0.01). 23370486

2013

dbSNP: rs784288
rs784288
0.010 GeneticVariation BEFREE In a combined meta-analysis of a discovery cohort (288 cases and 1139 controls), three hospital based sets in replication stage I (462 cases and 1745 controls), and an independent ethnic group in replication stage II (369 cases and 560 for controls), we identified a new locus associated with OF (rs784288 in the MECOM gene) that showed genome-wide significance (p=3.59×10(-8); OR 1.39). 23349225

2013

dbSNP: rs12475342
rs12475342
0.010 GeneticVariation BEFREE We identified one SNP in TNFRSF11B (rs3102734), three SNPs in ESR1 (rs9397448, rs2234693, and rs1643821), two SNPs in LRP4 (rs17790156 and rs898604), and four SNPs in SPTBN1 (rs2971886, rs2941583, rs2941584, and rs12475342) were associated with all of the broadly defined osteoporotic fractures. 22807154

2012

dbSNP: rs1643821
rs1643821
0.010 GeneticVariation BEFREE We identified one SNP in TNFRSF11B (rs3102734), three SNPs in ESR1 (rs9397448, rs2234693, and rs1643821), two SNPs in LRP4 (rs17790156 and rs898604), and four SNPs in SPTBN1 (rs2971886, rs2941583, rs2941584, and rs12475342) were associated with all of the broadly defined osteoporotic fractures. 22807154

2012

dbSNP: rs17790156
rs17790156
0.010 GeneticVariation BEFREE We identified one SNP in TNFRSF11B (rs3102734), three SNPs in ESR1 (rs9397448, rs2234693, and rs1643821), two SNPs in LRP4 (rs17790156 and rs898604), and four SNPs in SPTBN1 (rs2971886, rs2941583, rs2941584, and rs12475342) were associated with all of the broadly defined osteoporotic fractures. 22807154

2012

dbSNP: rs2234693
rs2234693
0.010 GeneticVariation BEFREE We identified one SNP in TNFRSF11B (rs3102734), three SNPs in ESR1 (rs9397448, rs2234693, and rs1643821), two SNPs in LRP4 (rs17790156 and rs898604), and four SNPs in SPTBN1 (rs2971886, rs2941583, rs2941584, and rs12475342) were associated with all of the broadly defined osteoporotic fractures. 22807154

2012

dbSNP: rs2941584
rs2941584
0.010 GeneticVariation BEFREE We identified one SNP in TNFRSF11B (rs3102734), three SNPs in ESR1 (rs9397448, rs2234693, and rs1643821), two SNPs in LRP4 (rs17790156 and rs898604), and four SNPs in SPTBN1 (rs2971886, rs2941583, rs2941584, and rs12475342) were associated with all of the broadly defined osteoporotic fractures. 22807154

2012

dbSNP: rs3087456
rs3087456
0.010 GeneticVariation BEFREE Despite increasing bone loss, the rs3087456(G) allele was protective against incident fracture overall (p = 0.002), osteoporotic fracture and hip fracture. 23133532

2012

dbSNP: rs3102734
rs3102734
0.010 GeneticVariation BEFREE The most significant polymorphism was rs3102734, with increased risk of osteoporotic fractures (odds ratio, 1.35; 95% confidence interval [CI], 1.17-1.55, Bonferroni p = 2.6 × 10(-4) ). 22807154

2012