rs4293393, UMOD

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
0.800 GeneticVariation GWASDB Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases. 20686651 2010
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
0.800 GeneticVariation GWASCAT Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases. 20686651 2010
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.700 GeneticVariation GWASDB Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. 21082022 2010
Nephrolithiasis
CUI: C0392525
Disease: Nephrolithiasis
0.010 GeneticVariation BEFREE We selected single-nucleotide polymorphism (SNPs) including rs12654812 and rs11746443 from 5q32.3; rs12669187 and rs1000597 from 7q14.3; rs7981733, rs4142110 and rs17646069 from 13q14.1 and rs4293393 from 16p12.3 which were previously reported to be associated with nephrolithiasis. 28361944 2017
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
0.010 GeneticVariation BEFREE A total of 646 individuals, 208 with T2DM without evidence of kidney disease (DM), 221 with DN and 217 healthy controls (HC) were genotyped for UMOD variant rs4293393T>C by restriction fragment length polymorphism. 29578190 2017
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE UMOD rs4293393 T>C variation might have a bearing on susceptibility to nephropathy in north Indian individuals with type 2 diabetes. 29578190 2017
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
0.010 GeneticVariation BEFREE UMOD rs4293393 T>C variation might have a bearing on susceptibility to nephropathy in north Indian individuals with type 2 diabetes. 29578190 2017
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.010 GeneticVariation BEFREE The frequency of UMOD rs4293393 variant with C allele was significantly higher in individuals with DN. 29578190 2017
Kidney Calculi
CUI: C0022650
Disease: Kidney Calculi
0.010 GeneticVariation BEFREE We selected single-nucleotide polymorphism (SNPs) including rs12654812 and rs11746443 from 5q32.3; rs12669187 and rs1000597 from 7q14.3; rs7981733, rs4142110 and rs17646069 from 13q14.1 and rs4293393 from 16p12.3 which were previously reported to be associated with nephrolithiasis. 28361944 2017
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.010 GeneticVariation BEFREE A total of 646 individuals, 208 with T2DM without evidence of kidney disease (DM), 221 with DN and 217 healthy controls (HC) were genotyped for UMOD variant rs4293393T>C by restriction fragment length polymorphism. 29578190 2017
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
0.010 GeneticVariation BEFREE We observed an association between CKD and a variant with 80% population frequency, rs4293393-T, positioned next to the UMOD gene (GeneID: 7369) on chromosome 16p12 (OR = 1.25, P = 4.1x10(-10)). 20686651 2010