Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7652589
rs7652589
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.060 GeneticVariation BEFREE Epidemiological studies observed that calcium nephrolithiasis was associated with polymorphisms of the CaSR gene regulatory region, rs6776158, located within the promoter-1, rs1501899 located in the intron 1, and rs7652589 in the 5'-untranslated region. 30446806

2019
dbSNP: rs7652589
rs7652589
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.060 GeneticVariation BEFREE Epidemiological studies observed that calcium nephrolithiasis was associated with polymorphisms of the CaSR gene regulatory region, rs6776158, located within the promoter-1, rs1501899 located in the intron 1, and rs7652589 in the 5'-untranslated region. 30446806

2019
dbSNP: rs7652589
rs7652589
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.060 GeneticVariation BEFREE Our study showed that CaSR rs7652589 polymorphism had a significant effect on the risk of developing calcium nephrolithiasis in the population of Yi nationality in Southwestern China. 29682741

2018
dbSNP: rs7652589
rs7652589
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.060 GeneticVariation BEFREE CASR rs7652589_rs1801725 AG haplotype was 1.5-fold more frequent in nephrolithiasis-related ESRD than the GG haplotype (P = 0.004). 29763933

2018
dbSNP: rs7652589
rs7652589
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.060 GeneticVariation BEFREE Our study showed that CaSR rs7652589 polymorphism had a significant effect on the risk of developing calcium nephrolithiasis in the population of Yi nationality in Southwestern China. 29682741

2018
dbSNP: rs7652589
rs7652589
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.060 GeneticVariation BEFREE CASR rs7652589_rs1801725 AG haplotype was 1.5-fold more frequent in nephrolithiasis-related ESRD than the GG haplotype (P = 0.004). 29763933

2018
dbSNP: rs7652589
rs7652589
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.060 GeneticVariation BEFREE Associations of the calcium-sensing receptor gene CASR rs7652589 SNP with nephrolithiasis and secondary hyperparathyroidism in haemodialysis patients. 27739473

2016
dbSNP: rs7652589
rs7652589
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.060 GeneticVariation BEFREE Associations of the calcium-sensing receptor gene CASR rs7652589 SNP with nephrolithiasis and secondary hyperparathyroidism in haemodialysis patients. 27739473

2016
dbSNP: rs7652589
rs7652589
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.060 GeneticVariation BEFREE Arg990Gly is located on exon 7 and produces a gain of the CaSR function. rs7652589 and rs1501899 were also associated with nephrolithiasis in patients with normal citrate excretion. 22660550

2012
dbSNP: rs7652589
rs7652589
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.060 GeneticVariation BEFREE Arg990Gly is located on exon 7 and produces a gain of the CaSR function. rs7652589 and rs1501899 were also associated with nephrolithiasis in patients with normal citrate excretion. 22660550

2012
dbSNP: rs7652589
rs7652589
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.060 GeneticVariation BEFREE Therefore, it is a candidate gene for calcium nephrolithiasis.In a case-control study we found an association between the normocitraturic stone formers and two SNPs of CaSR, located near the promoters region (rs7652589 and rs1501899). 22107799

2011
dbSNP: rs7652589
rs7652589
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.060 GeneticVariation BEFREE Therefore, it is a candidate gene for calcium nephrolithiasis.In a case-control study we found an association between the normocitraturic stone formers and two SNPs of CaSR, located near the promoters region (rs7652589 and rs1501899). 22107799

2011
dbSNP: rs7652589
rs7652589
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.020 GeneticVariation BEFREE CASR polymorphisms (rs7652589, rs1801725) are associated with dyslipidemia in HD patients. 31775661

2019
dbSNP: rs7652589
rs7652589
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.020 GeneticVariation BEFREE CASR polymorphisms (rs7652589, rs1801725) are associated with dyslipidemia in HD patients. 31775661

2019
dbSNP: rs7652589
rs7652589
CUI: C0020503
Disease: Hyperparathyroidism, Secondary
Hyperparathyroidism, Secondary 		0.020 GeneticVariation BEFREE The variant allele of CASR rs1801725 solely and together with the variant allele of rs7652589 increases risk of more advanced sHPT. 29763933

2018
dbSNP: rs7652589
rs7652589
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.020 GeneticVariation BEFREE We aimed to determine the associations of rs7652589 with nephrolithiasis-related ESRD, Ca, P, ALP, PTH, response to treatment with cinacalcet, prevalence of coronary artery disease, and all-cause/cardiovascular mortality in HD patients (n = 1162). 27739473

2016
dbSNP: rs7652589
rs7652589
CUI: C0020503
Disease: Hyperparathyroidism, Secondary
Hyperparathyroidism, Secondary 		0.020 GeneticVariation BEFREE Associations of the calcium-sensing receptor gene CASR rs7652589 SNP with nephrolithiasis and secondary hyperparathyroidism in haemodialysis patients. 27739473

2016
dbSNP: rs7652589
rs7652589
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.020 GeneticVariation BEFREE We aimed to determine the associations of rs7652589 with nephrolithiasis-related ESRD, Ca, P, ALP, PTH, response to treatment with cinacalcet, prevalence of coronary artery disease, and all-cause/cardiovascular mortality in HD patients (n = 1162). 27739473

2016
dbSNP: rs7652589
rs7652589
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		0.010 GeneticVariation BEFREE CASR polymorphisms (rs7652589, rs1801725) are associated with dyslipidemia in HD patients. 31775661

2019
dbSNP: rs7652589
rs7652589
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 GeneticVariation BEFREE In summary, minor alleles rs7652589 and rs1501899 are associated with reduced CaSR expression in neuroblastic tumors and neuroblastoma cell lines in which the CASR gene promoter P2 is not hypermethylated. 27862333

2017
dbSNP: rs7652589
rs7652589
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 GeneticVariation BEFREE In summary, minor alleles rs7652589 and rs1501899 are associated with reduced CaSR expression in neuroblastic tumors and neuroblastoma cell lines in which the CASR gene promoter P2 is not hypermethylated. 27862333

2017
dbSNP: rs7652589
rs7652589
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 GeneticVariation BEFREE In summary, minor alleles rs7652589 and rs1501899 are associated with reduced CaSR expression in neuroblastic tumors and neuroblastoma cell lines in which the CASR gene promoter P2 is not hypermethylated. 27862333

2017
dbSNP: rs7652589
rs7652589
CUI: C1334953
Disease: Neuroblastic tumors
Neuroblastic tumors 		0.010 GeneticVariation BEFREE In summary, minor alleles rs7652589 and rs1501899 are associated with reduced CaSR expression in neuroblastic tumors and neuroblastoma cell lines in which the CASR gene promoter P2 is not hypermethylated. 27862333

2017
dbSNP: rs7652589
rs7652589
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.010 GeneticVariation BEFREE This study shows that the A allele of rs7652589 is a risk allele for nephrolithiasis-related ESRD. 27739473

2016
dbSNP: rs7652589
rs7652589
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.010 GeneticVariation BEFREE This study shows that the A allele of rs7652589 is a risk allele for nephrolithiasis-related ESRD. 27739473

2016