Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6747972
rs6747972
A 0.810 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: rs6747972
rs6747972
0.810 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: rs6747972
rs6747972
A 0.810 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: rs6494696
rs6494696
0.710 GeneticVariation GWASDB Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. 17637780

2007

dbSNP: rs6494696
rs6494696
0.710 GeneticVariation BEFREE Our study found that one SNP increased the risk of RLS in Chinese population: rs6494696 of MAP2K5/SKOR1 (odds ratio [OR] = 0.09, p < .0001, recessive model). 28329290

2017

dbSNP: rs10208712
rs10208712
A 0.700 GeneticVariation GWASCAT Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. 29029846

2017

dbSNP: rs111652004
rs111652004
G 0.700 GeneticVariation GWASCAT Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. 29029846

2017

dbSNP: rs12046503
rs12046503
C 0.700 GeneticVariation GWASCAT Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. 29029846

2017

dbSNP: rs1820989
rs1820989
A 0.700 GeneticVariation GWASCAT Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. 29029846

2017

dbSNP: rs1848460
rs1848460
T 0.700 GeneticVariation GWASCAT Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. 29029846

2017

dbSNP: rs1983167
rs1983167
0.700 GeneticVariation GWASDB Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. 17637780

2007

dbSNP: rs340561
rs340561
T 0.700 GeneticVariation GWASCAT Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. 29029846

2017

dbSNP: rs7881785
rs7881785
0.700 GeneticVariation GWASDB Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. 17637780

2007

dbSNP: rs996064
rs996064
T 0.700 GeneticVariation GWASCAT Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. 29029846

2017

dbSNP: rs1229984
rs1229984
0.010 GeneticVariation BEFREE These results suggest an association between rs1229984 SNP and the risk for RLS. 29045753

2017

dbSNP: rs179945
rs179945
0.010 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 GWASDB A genetic risk factor for periodic limb movements in sleep. 17634447

2007

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 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
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 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 GWASDB Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. 17637780

2007

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 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