rs12794714, CYP2R1

N. diseases: 15
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Insulin-Dependent
0.020 GeneticVariation BEFREE CYP2R1 rs12794714 and rs10766196 polymorphisms were associated with a higher risk of type 1 diabetes. 31206955 2019
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.020 GeneticVariation BEFREE Two 25(OH)D reducing genetic variants in the DCHR7 gene (rs7944926 and rs11234027) and two in the CYP2R1 gene (rs10741657 and rs12794714) were genotyped in 92 416 participants of Danish descent, of whom 14 455 developed ischaemic heart disease (ICD-8:410-414; ICD-10:I20-I25) and 7061 myocardial infarction (ICD-8:410: ICD-10:I21-I22) from 1977 through 2011. 25981321 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.020 GeneticVariation BEFREE In this study, no significant difference was observed for VDR (rs2238136), GC (rs4588), CYP2R1 (rs12794714), and CYP27B1 (rs3782130) gene variants in either genotype or allele frequencies between the cases with CRC and the controls and this lack of difference remained even after adjustment for age, BMI, sex, smoking status, NSAID use, and family history of CRC. 24568525 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.020 GeneticVariation BEFREE A nominally significant association was detected between CRC and the SNP rs12794714 in the vitamin D 25-hydroxylase gene CYP2R1 (p = 0.019), a SNP that has previously been associated with serum vitamin D levels. 24562971 2014
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.020 GeneticVariation BEFREE Triangular relationship between single nucleotide polymorphisms in the CYP2R1 gene (rs10741657 and rs12794714), 25-hydroxyvitamin d levels, and coronary artery disease incidence. 25003556 2014
Diabetes Mellitus, Insulin-Dependent
0.020 GeneticVariation BEFREE Whereas the rs12794714 polymorphism was not associated with type 1 diabetes the variant 'G' of the rs10741657 polymorphism was more often transmitted to affected offspring (61% vs 39% P = 0.004) and was also more frequent in cases than in controls (46.1% vs 35.7%, P = 0.03). 17607662 2007
Vitamin D Deficiency
CUI: C0042870
Disease: Vitamin D Deficiency
0.010 GeneticVariation BEFREE The GG+GA genotype of CYP2R1 rs12794714 and AA+AG genotype of CYP2R1 rs10766196 were associated with prevalent vitamin D deficiency in children with type 1 diabetes. 31206955 2019
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.010 GeneticVariation BEFREE The results showed that the CYP2R1 rs12794714-G, rs10741657-A, rs1562902-C, and rs10766197-G alleles were significantly associated with increased susceptibility to HCV infection (all P<sub>FDR</sub> < 0.05, in additive/dominant models), and the combined effect of the four unfavorable alleles was related to an elevated risk of HCV infection in a locus-dosage manner (P<sub>trend</sub> = 0.008). 31520221 2019
Asthma
CUI: C0004096
Disease: Asthma
0.010 GeneticVariation BEFREE We found that rs12794714 and rs10877012 SNPs were associated with asthma risk. 29502202 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Gene-gene and gene-environment interaction analyses indicated that rs12794714-rs10766197 and rs12794714-vitamin D deficiency (VDD) models successfully predicted T2DM risk (P < 0.001). 30081191 2018
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.010 GeneticVariation BEFREE Two 25(OH)D reducing genetic variants in the DCHR7 gene (rs7944926 and rs11234027) and two in the CYP2R1 gene (rs10741657 and rs12794714) were genotyped in 92 416 participants of Danish descent, of whom 14 455 developed ischaemic heart disease (ICD-8:410-414; ICD-10:I20-I25) and 7061 myocardial infarction (ICD-8:410: ICD-10:I21-I22) from 1977 through 2011. 25981321 2015
Myocardial Ischemia
CUI: C0151744
Disease: Myocardial Ischemia
0.010 GeneticVariation BEFREE Two 25(OH)D reducing genetic variants in the DCHR7 gene (rs7944926 and rs11234027) and two in the CYP2R1 gene (rs10741657 and rs12794714) were genotyped in 92 416 participants of Danish descent, of whom 14 455 developed ischaemic heart disease (ICD-8:410-414; ICD-10:I20-I25) and 7061 myocardial infarction (ICD-8:410: ICD-10:I21-I22) from 1977 through 2011. 25981321 2015
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.010 GeneticVariation BEFREE Triangular relationship between single nucleotide polymorphisms in the CYP2R1 gene (rs10741657 and rs12794714), 25-hydroxyvitamin d levels, and coronary artery disease incidence. 25003556 2014
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.010 GeneticVariation BEFREE Triangular relationship between single nucleotide polymorphisms in the CYP2R1 gene (rs10741657 and rs12794714), 25-hydroxyvitamin d levels, and coronary artery disease incidence. 25003556 2014
Primary differentiated carcinoma of thyroid gland
0.010 GeneticVariation BEFREE German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). 22690899 2012
Differentiated Thyroid Gland Carcinoma
0.010 GeneticVariation BEFREE German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). 22690899 2012
Follicular thyroid carcinoma
CUI: C0206682
Disease: Follicular thyroid carcinoma
0.010 GeneticVariation BEFREE German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). 22690899 2012
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.010 GeneticVariation BEFREE German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). 22690899 2012