Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057515572
rs1057515572
ACT 0.700 GeneticVariation CLINVAR Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 17557300

2007

dbSNP: rs1057518775
rs1057518775
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922479
rs193922479
T 0.700 GeneticVariation CLINVAR

dbSNP: rs587777732
rs587777732
T 0.700 CausalMutation CLINVAR

dbSNP: rs886041065
rs886041065
T 0.700 CausalMutation CLINVAR

dbSNP: rs1801282
rs1801282
0.090 GeneticVariation BEFREE We investigated individual and combined associations of Pro12Ala and His447His polymorphisms of PPARγ with PCOS susceptibility and its related traits (hyperinsulinemia, hyperandrogenemia and lipid parameters) in Indian women. 23748472

2013

dbSNP: rs1805192
rs1805192
0.090 GeneticVariation BEFREE We investigated individual and combined associations of Pro12Ala and His447His polymorphisms of PPARγ with PCOS susceptibility and its related traits (hyperinsulinemia, hyperandrogenemia and lipid parameters) in Indian women. 23748472

2013

dbSNP: rs1801282
rs1801282
0.090 GeneticVariation BEFREE Pro12Ala, a missense mutation in exon 2 of PPARG, reduces transcriptional activity of PPARgamma2 and is shown to be associated with increased insulin sensitivity and protection from T2D. 20368233

2010

dbSNP: rs1805192
rs1805192
0.090 GeneticVariation BEFREE Pro12Ala, a missense mutation in exon 2 of PPARG, reduces transcriptional activity of PPARgamma2 and is shown to be associated with increased insulin sensitivity and protection from T2D. 20368233

2010

dbSNP: rs1801282
rs1801282
0.090 GeneticVariation BEFREE We studied the effect of the Pro12Ala polymorphism on the rates of whole-body, skeletal muscle, and subcutaneous adipose tissue glucose uptake (GU) in T2DM subjects, and the rates of hepatic GU in nondiabetic and T2DM subjects during hyperinsulinemia. 19303976

2009

dbSNP: rs1805192
rs1805192
0.090 GeneticVariation BEFREE We studied the effect of the Pro12Ala polymorphism on the rates of whole-body, skeletal muscle, and subcutaneous adipose tissue glucose uptake (GU) in T2DM subjects, and the rates of hepatic GU in nondiabetic and T2DM subjects during hyperinsulinemia. 19303976

2009

dbSNP: rs1801282
rs1801282
0.090 GeneticVariation BEFREE The Pro12Ala polymorphism of the PPARgamma gene is associated with increased insulin sensitivity and lower hirsutism scores in PCOS women. 15853827

2005

dbSNP: rs1805192
rs1805192
0.090 GeneticVariation BEFREE The Pro12Ala polymorphism of the PPARgamma gene is associated with increased insulin sensitivity and lower hirsutism scores in PCOS women. 15853827

2005

dbSNP: rs1801282
rs1801282
0.090 GeneticVariation BEFREE A common polymorphism (Pro12Ala) of the adipose tissue-specific gamma 2 isoform is associated with increased insulin sensitivity and decreased risk of developing type 2 diabetes. 12643137

2002

dbSNP: rs1801282
rs1801282
0.090 GeneticVariation BEFREE Our results suggest that the Pro12Ala polymorphism of the PPARgamma-2 gene promotes peripheral deposition of adipose tissue and increased insulin sensitivity for a given BMI. 12370112

2002

dbSNP: rs1805192
rs1805192
0.090 GeneticVariation BEFREE A common polymorphism (Pro12Ala) of the adipose tissue-specific gamma 2 isoform is associated with increased insulin sensitivity and decreased risk of developing type 2 diabetes. 12643137

2002

dbSNP: rs1805192
rs1805192
0.090 GeneticVariation BEFREE Our results suggest that the Pro12Ala polymorphism of the PPARgamma-2 gene promotes peripheral deposition of adipose tissue and increased insulin sensitivity for a given BMI. 12370112

2002

dbSNP: rs1801282
rs1801282
0.090 GeneticVariation BEFREE Among the genetic factors, a polymorphism (Pro12Ala) in the peroxisome proliferator-activated receptor (PPAR) gamma is associated with a reduced risk of type 2 diabetes mellitus and increased insulin sensitivity, primarily that of lipolysis. 11684868

2001

dbSNP: rs1801282
rs1801282
0.090 GeneticVariation BEFREE The Pro12Ala polymorphism in the PPAR-gamma2 gene has been associated with reduced transcriptional activity in vitro and increased insulin sensitivity in vivo. 11334419

2001

dbSNP: rs1805192
rs1805192
0.090 GeneticVariation BEFREE The Pro12Ala polymorphism in the PPAR-gamma2 gene has been associated with reduced transcriptional activity in vitro and increased insulin sensitivity in vivo. 11334419

2001

dbSNP: rs1805192
rs1805192
0.090 GeneticVariation BEFREE Among the genetic factors, a polymorphism (Pro12Ala) in the peroxisome proliferator-activated receptor (PPAR) gamma is associated with a reduced risk of type 2 diabetes mellitus and increased insulin sensitivity, primarily that of lipolysis. 11684868

2001

dbSNP: rs1801282
rs1801282
0.090 GeneticVariation BEFREE The PPARgamma2 amino acid polymorphism Pro 12 Ala is prevalent in offspring of Type II diabetic patients and is associated to increased insulin sensitivity in a subgroup of obese subjects. 10382597

1999

dbSNP: rs1805192
rs1805192
0.090 GeneticVariation BEFREE The PPARgamma2 amino acid polymorphism Pro 12 Ala is prevalent in offspring of Type II diabetic patients and is associated to increased insulin sensitivity in a subgroup of obese subjects. 10382597

1999

dbSNP: rs11575937
rs11575937
0.030 GeneticVariation BEFREE Through the use of focused DNA sequencing of positional candidate genes on chromosome 1q21, we discovered that FPLD results from mutations in LMNA (R482Q; OMIM 150330.0010), which is the gene that encodes nuclear lamins A and C. By stratifying members of extended FPLD pedigrees according to LMNA genotype, we found that hyperinsulinemia is present early in the course of the disease and that dyslipidemia (characterized by high triglycerides and depressed HDL cholesterol) precedes the development of glucose abnormalities. 11136544

2000

dbSNP: rs11575937
rs11575937
0.030 GeneticVariation BEFREE Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes. 10810087

2000