Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9357271
rs9357271
0.880 GeneticVariation BEFREE The examined genes and single-nucleotide polymorphisms were 1) TMPRSS6, involved in regulation of hepcidin: rs855791; 2) HFE, associated with hemochromatosis: rs1800562 and rs1799945; 3) BTBD9, associated with restless leg syndrome: rs9357271; and 4) TF, encoding transferrin: rs2280673 and rs1830084. 30536387

2019

dbSNP: rs9357271
rs9357271
0.880 GeneticVariation BEFREE A further meta-analysis of RLS in Asian population found that two SNPs of BTBD9 increased the risk of RLS: rs9296249 of BTBD9 (OR = 1.44, p = .000, T allele), rs9357271 of BTBD9 (OR = 1.38, p = .021, dominant model). 28329290

2017

dbSNP: rs9357271
rs9357271
0.880 GeneticVariation BEFREE Moreover, we found the haplotype polymorphisms of rs9357271, rs3923809, and rs9296249 (overall p=5.69×10<sup>-18</sup>) in <i>BTBD9</i> was associated with RLS. 29209388

2017

dbSNP: rs9357271
rs9357271
0.880 GeneticVariation BEFREE The effect of six single-nucleotide polymorphisms (SNPs) on ferritin levels in 14,126 blood donors were investigated in four genes: in Human Hemochromatosis Protein gene (HFE; rs1800562 and rs179945); in Transmembrane Protease gene, Serine 6 (TMPRSS6-regulating hepcidin; rs855791); in BTB domain containing protein gene (BTBD9-associated with restless legs syndrome; rs9357271); and in the Transferrin gene (TF; rs2280673 and rs1830084). 26597663

2016

dbSNP: rs9357271
rs9357271
0.880 GeneticVariation BEFREE However, the original genome-wide association study (GWAS) marker, BTBD9 rs9357271, had stronger association with RLS (OR = 1.84, p = 0.0003). 26298793

2015

dbSNP: rs9357271
rs9357271
0.880 GeneticVariation BEFREE There was a significant difference in the allele frequency (χ(2) = 8.14, p = 0.004) of the rs9357271 polymorphism between schizophrenic patients with and without RLS symptoms. 23361623

2013

dbSNP: rs9357271
rs9357271
T 0.880 GeneticVariation GWASCAT Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. 21779176

2011

dbSNP: rs9357271
rs9357271
T 0.880 GeneticVariation GWASDB Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. 21779176

2011

dbSNP: rs9357271
rs9357271
0.880 GeneticVariation BEFREE Case-control association studies showed significant association between all three variants and RLS (P=0.0001/OR=1.65, P=0.0021/OR=1.59, and P=0.0011/OR=1.55 for rs2300478, rs9357271, and rs1026732, respectively). 21925394

2011

dbSNP: rs9357271
rs9357271
0.880 GeneticVariation BEFREE The study provided 3 single-nucleotide polymorphisms within BTBD9 associated with TS (chi(2) = 8.02 [P = .005] for rs9357271), with the risk alleles for restless legs syndrome and periodic limb movements during sleep overrepresented in the TS cohort. 19822783

2009

dbSNP: rs9357271
rs9357271
0.880 GeneticVariation GWASDB A genetic risk factor for periodic limb movements in sleep. 17634447

2007

dbSNP: rs9357271
rs9357271
0.880 GeneticVariation GWASDB Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. 17637780

2007

dbSNP: rs3104767
rs3104767
0.840 GeneticVariation BEFREE The minor allele T of SNP rs3104767 was associated with an increased risk of RLS being perceived as painful with an OR of 1.67 [CI = (1.01-2.74); p = 0.049]. 31706190

2020

dbSNP: rs3104767
rs3104767
0.840 GeneticVariation BEFREE A nominal association was observed for homozygous carriers of the rs3104767</span> SNP in PD (OR 1.62, 95% CI 1.05-2.54, p = 0.034), i.e., with an opposite direction of effect on RLS and PD, but this was not significant after Bonferroni correction. 29404899

2018

dbSNP: rs3104767
rs3104767
0.840 GeneticVariation BEFREE A modest association between the PTPRD variant rs4626664 and uremic RLS (odds ratio 1.52, 95% CI 1.03-2.23, P = 0.03) and a trend that TOX3/BC034767 variant rs3104767 may associate with the occurrence of RLS were observed in our dialysis population (odds ratio 1.74, 95% CI 0.97-3.11, P = 0.06). 24433515

2014

dbSNP: rs3104767
rs3104767
0.840 GeneticVariation BEFREE Herein, we identified six RLS susceptibility loci of genome-wide significance, two of them novel: an intergenic region on chromosome 2p14 (rs6747972, P = 9.03 × 10(-11), OR = 1.23) and a locus on 16q12.1 (rs3104767, P = 9.4 × 10(-19), OR = 1.35) in a linkage disequilibrium block of 140 kb containing the 5'-end of TOX3 and the adjacent non-coding RNA BC034767. 21779176

2011

dbSNP: rs3104767
rs3104767
G 0.840 GeneticVariation GWASDB Herein, we identified six RLS susceptibility loci of genome-wide significance, two of them novel: an intergenic region on chromosome 2p14 (rs6747972, P = 9.03 × 10(-11), OR = 1.23) and a locus on 16q12.1 (rs3104767, P = 9.4 × 10(-19), OR = 1.35) in a linkage disequilibrium block of 140 kb containing the 5'-end of TOX3 and the adjacent non-coding RNA BC034767. 21779176

2011

dbSNP: rs3104767
rs3104767
G 0.840 GeneticVariation GWASCAT Herein, we identified six RLS susceptibility loci of genome-wide significance, two of them novel: an intergenic region on chromosome 2p14 (rs6747972, P = 9.03 × 10(-11), OR = 1.23) and a locus on 16q12.1 (rs3104767, P = 9.4 × 10(-19), OR = 1.35) in a linkage disequilibrium block of 140 kb containing the 5'-end of TOX3 and the adjacent non-coding RNA BC034767. 21779176

2011

dbSNP: rs3923809
rs3923809
0.820 GeneticVariation BEFREE Moreover, we found the haplotype polymorphisms of rs9357271, rs3923809, and rs9296249 (overall p=5.69×10<sup>-18</sup>) in <i>BTBD9</i> was associated with RLS. 29209388

2017

dbSNP: rs9296249
rs9296249
0.820 GeneticVariation BEFREE Moreover, we found the haplotype polymorphisms of rs9357271, rs3923809, and rs9296249 (overall p=5.69×10<sup>-18</sup>) in <i>BTBD9</i> was associated with RLS. 29209388

2017

dbSNP: rs9296249
rs9296249
0.820 GeneticVariation BEFREE A further meta-analysis of RLS in Asian population found that two SNPs of BTBD9 increased the risk of RLS: rs9296249 of BTBD9 (OR = 1.44, p = .000, T allele), rs9357271 of BTBD9 (OR = 1.38, p = .021, dominant model). 28329290

2017

dbSNP: rs2300478
rs2300478
0.820 GeneticVariation BEFREE The most significant SNP of MEIS1, rs2300478, increased the risk of RLS by 1.42-fold in the overall cohort ( p = 0.0047). 26643377

2016

dbSNP: rs4626664
rs4626664
0.820 GeneticVariation BEFREE A modest association between the PTPRD variant rs4626664 and uremic RLS (odds ratio 1.52, 95% CI 1.03-2.23, P = 0.03) and a trend that TOX3/BC034767 variant rs3104767 may associate with the occurrence of RLS were observed in our dialysis population (odds ratio 1.74, 95% CI 0.97-3.11, P = 0.06). 24433515

2014

dbSNP: rs3923809
rs3923809
0.820 GeneticVariation BEFREE When we compared the frequencies of the rs3923809-rs9357271 haplotypes between the two groups, the overall haplotype frequencies were significantly different (permuted p = 0.037), and the A-T haplotype was significantly more frequent in the RLS symptom group than in the no RLS symptom group (0.112 vs. 0.041, permuted p = 0.007). 23361623

2013

dbSNP: rs2300478
rs2300478
G 0.820 GeneticVariation GWASCAT Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. 21779176

2011