Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799945
rs1799945
0.010 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: rs2229940
rs2229940
0.010 GeneticVariation BEFREE These results suggest association between GABRR3rs832032 polymorphism and the risk for RLS, and a modifier effect of GABRA4 rs2229940 on the age of onset of RLS. 29720720

2018

dbSNP: rs3810651
rs3810651
0.010 GeneticVariation BEFREE We studied the genotype and allelic variant frequencies of the most common SNPs in the GABRR1(rs12200969, rs1186902), GABRR2(rs282129), GABRR3(rs832032), GABRA4(rs2229940), GABRE(rs1139916), and GABRQ(rs3810651) genes in 205 RLS patients and 230 age- and gender-matched healthy controls using specific TaqMan assays. 29720720

2018

dbSNP: rs4784226
rs4784226
0.010 GeneticVariation BEFREE Two case-control cohorts including 644 PD patients, 457 RLS patients, and 945 controls were genotyped for one known RLS-related SNP (rs3104767) and one PD-related SNP (rs4784226) in the TOX3 locus. 29404899

2018

dbSNP: rs11558538
rs11558538
0.010 GeneticVariation BEFREE These results suggest a lack of major association between HNMT rs11558538 SNP and the risk for RLS. 27837280

2017

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

2017

dbSNP: rs1918752
rs1918752
0.010 GeneticVariation BEFREE In the initial GWA study of RLS, we observed an association of rs11645604 (OR=1.531, p=1.18×10<sup>-6</sup>) in <i>MPHOSPH6</i> on chromosome 16q23.3, rs1918752 (OR=0.6582, p=1.93×10<sup>-6</sup>) and rs9390170 (OR=0.6778, p=7.67×10<sup>-6</sup>) in <i>UTRN</i> on chromosome 6q24. 29209388

2017

dbSNP: rs9390170
rs9390170
0.010 GeneticVariation BEFREE From our sequential GWA and replication study, we could hypothesize rs9390170 polymorphism in <i>UTRN</i> is a novel genetic marker for susceptibility to RLS. 29209388

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: rs2228570
rs2228570
VDR
0.010 GeneticVariation BEFREE We analyzed the possible relationship of 2 common single nucleotide polymorphisms (SNPs) in the vitamin D3 receptor (VDR) gene with the risk for RLS.We studied the genotype and allelic variant frequencies of VDR rs2228570 and VDR rs731236 SNPs in 205 RLS patients and 445 healthy controls using a TaqMan essay.The frequencies of the rs731236AA genotype and the allelic variant rs731236A were significantly lower in RLS patients than in controls (P < 0.005 and < 0.01, respectively). 26632733

2015

dbSNP: rs4746
rs4746
0.010 GeneticVariation BEFREE The GLO1 p.E111A variant was associated with RLS in the French-Canadian cohort (odds ratio, OR = 1.38, p = 0.02), and demonstrated a similar trend in the US cohort (OR = 1.26, p = 0.09, combined analysis OR = 1.28, p = 0.009). 26298793

2015

dbSNP: rs693534
rs693534
0.010 GeneticVariation BEFREE The rs7977109 and rs693534 genotypes and allelic frequencies did not significantly differ between patients with RLS and controls and were unrelated with the age at onset of RLS, gender, ferritin levels, and response to dopaminergic or gabaergic agents. 25300364

2015

dbSNP: rs7977109
rs7977109
0.010 GeneticVariation BEFREE The rs7977109 and rs693534 genotypes and allelic frequencies did not significantly differ between patients with RLS and controls and were unrelated with the age at onset of RLS, gender, ferritin levels, and response to dopaminergic or gabaergic agents. 25300364

2015

dbSNP: rs1143633
rs1143633
0.010 GeneticVariation BEFREE Controlling for race, gender, and hemoglobin, carrying two copies of the minor allele for IL1B rs1143643, rs1143634, or rs1143633 or carrying the minor allele for IL17A rs8193036 was associated with increased likelihood of meeting RLS diagnostic criteria. 23460603

2014

dbSNP: rs1143634
rs1143634
0.010 GeneticVariation BEFREE Controlling for race, gender, and hemoglobin, carrying two copies of the minor allele for IL1B rs1143643, rs1143634, or rs1143633 or carrying the minor allele for IL17A rs8193036 was associated with increased likelihood of meeting RLS diagnostic criteria. 23460603

2014

dbSNP: rs1801260
rs1801260
0.010 GeneticVariation BEFREE Distribution of CLOCK haplotypes (rs2412646-rs1801260) was significantly different between schizophrenic patients with and without RLS (p = 0.021). 24824748

2014

dbSNP: rs2412646
rs2412646
0.010 GeneticVariation BEFREE Distribution of CLOCK haplotypes (rs2412646-rs1801260) was significantly different between schizophrenic patients with and without RLS (p = 0.021). 24824748

2014

dbSNP: rs3794087
rs3794087
0.010 GeneticVariation BEFREE The results of our study suggest that the rs3794087 polymorphism is not related to the risk for RLS. 24424098

2014

dbSNP: rs41305272
rs41305272
0.010 GeneticVariation BEFREE A predicted miR-330-3p target site SNP (rs41305272) in mitogen-activated protein kinase kinase 5 (MAP2K5) mRNA was in LD (d' = 1.0, r(2) = 0.02) with a reported GWAS-identified variant for restless legs syndrome (RLS), a disorder frequently comorbid with anxiety and depression, possibly because of a shared pathophysiology. 24436253

2014

dbSNP: rs8193036
rs8193036
0.010 GeneticVariation BEFREE Controlling for race, gender, and hemoglobin, carrying two copies of the minor allele for IL1B rs1143643, rs1143634, or rs1143633 or carrying the minor allele for IL17A rs8193036 was associated with increased likelihood of meeting RLS diagnostic criteria. 23460603

2014

dbSNP: rs1052553
rs1052553
0.010 GeneticVariation BEFREE The results of the present study suggest that the SNP rs1052553</span> is not related with the risk for RLS. 23001634

2013

dbSNP: rs1800652
rs1800652
FXN
0.010 GeneticVariation BEFREE Especially, rs1800652 (C282Y) in the HFE gene did not associate with RLS. 22929029

2013

dbSNP: rs138915427
rs138915427
0.010 GeneticVariation BEFREE The rare D1639 allele did not co-segregate with RLS in the family, suggesting that p.E1639D variant is not a causative mutation. 21264940

2011

dbSNP: rs371856018
rs371856018
MPZ
0.010 GeneticVariation BEFREE MPZ mutation His39Pro may be associated with acute-onset neuropathy, early-onset hearing loss and restless legs. 16844954

2006

dbSNP: rs1830084
rs1830084
0.020 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