Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1549758
rs1549758
0.010 GeneticVariation BEFREE The goal of this study was to evaluate whether genetic variants T-786C (rs2070744), G894T (rs1799983) and C774T (rs1549758) in the endothelial nitric oxide (NOS3) gene and/or their haplotypes could be associated with the risk of MetS in SCH patients or healthy subjects from Russian population. 29907847

2018

dbSNP: rs1799983
rs1799983
0.010 GeneticVariation BEFREE The goal of this study was to evaluate whether genetic variants T-786C (rs2070744), G894T (rs1799983) and C774T (rs1549758) in the endothelial nitric oxide (NOS3) gene and/or their haplotypes could be associated with the risk of MetS in SCH patients or healthy subjects from Russian population. 29907847

2018

dbSNP: rs732609
rs732609
TPO
0.010 GeneticVariation BEFREE The aim of this study was to examine the relationship between the Asn698Thr (A2095C) and Thr725Pro (A2173C) polymorphisms of the TPO gene and anti-TPO levels in patients with SCH. 28500830

2017

dbSNP: rs189261858
rs189261858
0.010 GeneticVariation BEFREE The previously reported hotspot mutation p.R450H was found in only one SCH patient. 27637299

2016

dbSNP: rs2046045
rs2046045
0.010 GeneticVariation BEFREE After adjusting for multiple testing by the program SNPSpD, allelic frequencies of rs4704397 (p = 0.016, OR = 1.692), rs6885099 (p = 0.031, OR = 0.621), and rs2046045 (p = 0.023, OR = 0.602) in PDE8B gene showed significant differences between patients with SCH and control subjects. 25822812

2015

dbSNP: rs4704397
rs4704397
0.010 GeneticVariation BEFREE After adjusting for multiple testing by the program SNPSpD, allelic frequencies of rs4704397 (p = 0.016, OR = 1.692), rs6885099 (p = 0.031, OR = 0.621), and rs2046045 (p = 0.023, OR = 0.602) in PDE8B gene showed significant differences between patients with SCH and control subjects. 25822812

2015

dbSNP: rs6885099
rs6885099
0.010 GeneticVariation BEFREE After adjusting for multiple testing by the program SNPSpD, allelic frequencies of rs4704397 (p = 0.016, OR = 1.692), rs6885099 (p = 0.031, OR = 0.621), and rs2046045 (p = 0.023, OR = 0.602) in PDE8B gene showed significant differences between patients with SCH and control subjects. 25822812

2015

dbSNP: rs121913499
rs121913499
0.010 GeneticVariation BEFREE The R132C IDH1 mutation was identified by hydrolysis probes assay and confirmed by Sanger sequencing in 18 of 28 (64%) SCHs; of the 10 negative cases, 2 harbored a mutation in IDH2 (R172T and R172M) by Sanger sequencing. 23485734

2013

dbSNP: rs121913503
rs121913503
0.010 GeneticVariation BEFREE The R132C IDH1 mutation was identified by hydrolysis probes assay and confirmed by Sanger sequencing in 18 of 28 (64%) SCHs; of the 10 negative cases, 2 harbored a mutation in IDH2 (R172T and R172M) by Sanger sequencing. 23485734

2013

dbSNP: rs1800629
rs1800629
TNF
0.010 GeneticVariation BEFREE We genotyped the TNF -308G/A polymorphism (rs1800629) by PCR-RFLP in 348 patients with SCH, 361 patients with BPAD and in 351 controls. 18515978

2008