Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10741657
rs10741657
0.820 GeneticVariation BEFREE Published articles provide evidence supporting a major role for the rs10741657 polymorphism of the CYP2R1 gene in determining 25(OH)D levels and the presence of vitamin D deficiency. 30120973

2018

dbSNP: rs10741657
rs10741657
0.820 GeneticVariation BEFREE The presence of GG allele of the SNP rs2228570 of VDR gene, SNPs rs4588 of GC gene and CYP2R1 rs10741657 gene was associated with vitamin D deficiency. 27570856

2016

dbSNP: rs10741657
rs10741657
0.820 GeneticVariation GWASDB Common genetic determinants of vitamin D insufficiency: a genome-wide association study. 20541252

2010

dbSNP: rs10741657
rs10741657
0.820 GeneticVariation GWASCAT Common genetic determinants of vitamin D insufficiency: a genome-wide association study. 20541252

2010

dbSNP: rs12785878
rs12785878
0.810 GeneticVariation BEFREE Polymorphisms in CYP2R1-rs10766197 and DHCR7/NADSYN1-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations. 26149120

2015

dbSNP: rs2282679
rs2282679
GC
0.810 GeneticVariation BEFREE Using multiple logistic regression analysis, vitamin D deficiency was significantly associated with the GC rs2282679 genotype (odds ratio [OR] per C allele 1.80, 95% confidence interval CI 1.57-2.01), independent of established risk factors for vitamin D deficiency including age, sex, and BMI. 25370324

2015

dbSNP: rs12785878
rs12785878
0.810 GeneticVariation GWASDB Common genetic determinants of vitamin D insufficiency: a genome-wide association study. 20541252

2010

dbSNP: rs12785878
rs12785878
0.810 GeneticVariation GWASCAT Common genetic determinants of vitamin D insufficiency: a genome-wide association study. 20541252

2010

dbSNP: rs2282679
rs2282679
GC
0.810 GeneticVariation GWASCAT Common genetic determinants of vitamin D insufficiency: a genome-wide association study. 20541252

2010

dbSNP: rs2282679
rs2282679
GC
0.810 GeneticVariation GWASDB Common genetic determinants of vitamin D insufficiency: a genome-wide association study. 20541252

2010

dbSNP: rs1428826948
rs1428826948
G 0.700 SusceptibilityMutation CLINVAR Association of trypanolytic ApoL1 variants with kidney disease in African Americans. 20647424

2010

dbSNP: rs151344517
rs151344517
T 0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928

2010

dbSNP: rs1569534160
rs1569534160
G 0.700 SusceptibilityMutation CLINVAR Association of trypanolytic ApoL1 variants with kidney disease in African Americans. 20647424

2010

dbSNP: rs1163944538
rs1163944538
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1202430946
rs1202430946
A 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555939456
rs1555939456
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1557781252
rs1557781252
A 0.700 CausalMutation CLINVAR

dbSNP: rs1568523935
rs1568523935
G 0.700 GeneticVariation CLINVAR

dbSNP: rs587778779
rs587778779
T 0.700 CausalMutation CLINVAR

dbSNP: rs4588
rs4588
GC
0.040 GeneticVariation BEFREE In women with a vitamin D deficiency (<20 ng/ml), the GT allele of the VDBP SNP rs7041 (p value =0.04), the VDBP allelic combination Gc1F/1F (T allele of rs4588 and C allele of rs7041) (p value =0.03), and the GA allele of the CYP2R1 SNP rs2060793 (p = 0.05) were associated with an increased risk of developing PCOS. 28008453

2018

dbSNP: rs4588
rs4588
GC
0.040 GeneticVariation BEFREE DBP polymorphism was associated to HCV genotype (GC rs7041), previous HCV treatment, and GGT (GC rs4588).In conclusion, low frequency of vitamin D deficiency was found, but VDR polymorphisms were frequently associated to fibrosis grade suggesting that they could be used as disease evaluation markers to understand the mechanisms underlying the virus-host interaction. 29465575

2018

dbSNP: rs7041
rs7041
GC
0.040 GeneticVariation BEFREE Genotype risk score (GRS) calculated from rs7041, rs2242480 and rs2209314 shown a significantly negative association with 25(OH)D levels. 29153269

2018

dbSNP: rs7041
rs7041
GC
0.040 GeneticVariation BEFREE In women with a vitamin D deficiency (<20 ng/ml), the GT allele of the VDBP SNP rs7041 (p value =0.04), the VDBP allelic combination Gc1F/1F (T allele of rs4588 and C allele of rs7041) (p value =0.03), and the GA allele of the CYP2R1 SNP rs2060793 (p = 0.05) were associated with an increased risk of developing PCOS. 28008453

2018

dbSNP: rs7041
rs7041
GC
0.040 GeneticVariation BEFREE DBP polymorphism was associated to HCV genotype (GC rs7041), previous HCV treatment, and GGT (GC rs4588).In conclusion, low frequency of vitamin D deficiency was found, but VDR polymorphisms were frequently associated to fibrosis grade suggesting that they could be used as disease evaluation markers to understand the mechanisms underlying the virus-host interaction. 29465575

2018