rs11643718, SLC12A3

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Serum HDL cholesterol measurement
CUI: C0428472
Disease: Serum HDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
High density lipoprotein measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.070 GeneticVariation BEFREE The results showed in this systematic review contribute to better understanding of the association between the Arg913Gln variation of SLC12A3 gene with the pathogenesis of diabetic nephropathy in individuals with T2DM and GS. 31660880 2019
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.070 GeneticVariation BEFREE The SLC12A3-Arg913Gln variation may be associated with increased blood pressure and UAER and, therefore, could be used to predict the development and progression of DN-ESRD in Chinese T2DM patients undergoing hemodialysis. 28744814 2018
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.070 GeneticVariation BEFREE This is the first study to report a significant association of the SLC12A3 rs11643718 and ELMO1 rs741301 (Single nucleotide Polymorphism) SNPs with diabetic nephropathy in south Indians. 27699784 2016
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.070 GeneticVariation BEFREE We found that SLC12A3 Arg913Gln polymorphism was associated with T2D (p = 0.028, OR = 0.772, 95% CI = 0.612-0.973) and DN (p = 0.038, OR = 0.547, 95% CI = 0.308-0.973) in the Malaysian cohort. 25401745 2014
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.070 GeneticVariation BEFREE Three SNPs (g.34372G>A [Arg913Gln], g.39143G>A, and g.41727C>T) were found to be associated with ESRD due to diabetic nephropathy. 16505253 2006
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.070 GeneticVariation BEFREE We have shown previously that the SLC12A3 +78G/A polymorphism in exon 23 (Arg913Gln) was a new candidate for conferring susceptibility to diabetic nephropathy. 15915338 2005
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.070 GeneticVariation BEFREE The results implicated that substitution of Arg913 to Gln in the SLC12A3 gene might reduce the risk to develop diabetic nephropathy and suggested that the gene product might be a potential target for the prevention or treatment of this disease. 14578305 2003
Diabetes Mellitus, Non-Insulin-Dependent
0.040 GeneticVariation BEFREE Arg913Gln variation of SLC12A3 gene is associated with diabetic nephropathy in type 2 diabetes and Gitelman syndrome: a systematic review. 31660880 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.040 GeneticVariation BEFREE Arg913Gln of SLC12A3 gene promotes development and progression of end-stage renal disease in Chinese type 2 diabetes mellitus. 28744814 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.040 GeneticVariation BEFREE We found that SLC12A3 Arg913Gln polymorphism was associated with T2D (p = 0.028, OR = 0.772, 95% CI = 0.612-0.973) and DN (p = 0.038, OR = 0.547, 95% CI = 0.308-0.973) in the Malaysian cohort. 25401745 2014
Diabetes Mellitus, Non-Insulin-Dependent
0.040 GeneticVariation BEFREE Polymorphism of the solute carrier family 12 (sodium/chloride transporters) member 3, SLC12A3, gene at exon 23 (+78G/A: Arg913Gln) is associated with elevation of urinary albumin excretion in Japanese patients with type 2 diabetes: a 10-year longitudinal study. 15915338 2005
Essential Hypertension
CUI: C0085580
Disease: Essential Hypertension
0.030 GeneticVariation BEFREE Lack of an association between TSC gene Arg904Gln polymorphisms and essential hypertension risk based on a meta-analysis. 23079845 2012
Essential Hypertension
CUI: C0085580
Disease: Essential Hypertension
0.030 GeneticVariation BEFREE There was no significant association between the SLC12A3 R904Q variant and the ClC-Kb-T481S variant and essential hypertension in either ethnic group. 21644212 2011
Essential Hypertension
CUI: C0085580
Disease: Essential Hypertension
0.030 GeneticVariation BEFREE The roles of Thr418Ser polymorphism of the CLCNKB gene and Arg904Gln polymorphism in the TSC gene on essential hypertension need to be explored in other ethnic groups. 17997379 2008
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE The SLC12A3-Arg913Gln variation may be associated with increased blood pressure and UAER and, therefore, could be used to predict the development and progression of DN-ESRD in Chinese T2DM patients undergoing hemodialysis. 28744814 2018
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
0.020 GeneticVariation BEFREE The minor allele frequencies of rs11643718 SLC12A3 variant and rs741301 ELMO1 variant were significantly different between DM and DN groups (P = 0.029 and 0.016, respectively). 27699784 2016
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE No association or trend with hypertension was observed at Arg904Gln in Kazaks. 17997379 2008
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
0.020 GeneticVariation BEFREE Subsequent analysis of additional genetic variations in this gene identified several SNPs that were significantly associated with nephropathy, especially one in exon 23 (+78 G to A: Arg913Gln, chi(2) = 18.5, P = 0.00002, odds ratio = 2.53 [95% CI 1.64-3.90]). 14578305 2003
Gitelman Syndrome
CUI: C0268450
Disease: Gitelman Syndrome
0.010 GeneticVariation BEFREE Arg913Gln variation of SLC12A3 gene is associated with diabetic nephropathy in type 2 diabetes and Gitelman syndrome: a systematic review. 31660880 2019
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
0.010 GeneticVariation BEFREE The SLC12A3-Arg913Gln variation may be associated with increased blood pressure and UAER and, therefore, could be used to predict the development and progression of DN-ESRD in Chinese T2DM patients undergoing hemodialysis. 28744814 2018
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
0.010 GeneticVariation BEFREE The SLC12A3-Arg913Gln variation may be associated with increased blood pressure and UAER and, therefore, could be used to predict the development and progression of DN-ESRD in Chinese T2DM patients undergoing hemodialysis. 28744814 2018