Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2060793
rs2060793
Entrez Id: 120227
Gene Symbol: CYP2R1
CYP2R1
CUI: C0919758
Disease:
Vitamin D measurement
A 0.800 GeneticVariation GWASCAT Suggestive signals for association with 25(OH)D were also observed for SNPs in or near three other genes involved in vitamin D synthesis or activation: rs3829251 on chromosome 11q13.4 in NADSYN1 [encoding nicotinamide adenine dinucleotide (NAD) synthetase; P=8.8x10(-7)], which was in high LD with rs1790349, located in DHCR7, the gene encoding 7-dehydrocholesterol reductase that synthesizes cholesterol from 7-dehydrocholesterol; rs6599638 in the region harboring the open-reading frame 88 (C10orf88) on chromosome 10q26.13 in the vicinity of ACADSB (acyl-Coenzyme A dehydrogenase), involved in cholesterol and vitamin D synthesis (P=3.3x10(-7)); and rs2060793 on chromosome 11p15.2 in CYP2R1 (cytochrome P450, family 2, subfamily R, polypeptide 1, encoding a key C-25 hydroxylase that converts vitamin D3 to an active vitamin D receptor ligand; P=1.4x10(-5)). 20418485 2010
dbSNP: rs2060793
rs2060793
Entrez Id: 120227
Gene Symbol: CYP2R1
CYP2R1
CUI: C0919758
Disease:
Vitamin D measurement
A 0.800 GeneticVariation GWASDB Suggestive signals for association with 25(OH)D were also observed for SNPs in or near three other genes involved in vitamin D synthesis or activation: rs3829251 on chromosome 11q13.4 in NADSYN1 [encoding nicotinamide adenine dinucleotide (NAD) synthetase; P=8.8x10(-7)], which was in high LD with rs1790349, located in DHCR7, the gene encoding 7-dehydrocholesterol reductase that synthesizes cholesterol from 7-dehydrocholesterol; rs6599638 in the region harboring the open-reading frame 88 (C10orf88) on chromosome 10q26.13 in the vicinity of ACADSB (acyl-Coenzyme A dehydrogenase), involved in cholesterol and vitamin D synthesis (P=3.3x10(-7)); and rs2060793 on chromosome 11p15.2 in CYP2R1 (cytochrome P450, family 2, subfamily R, polypeptide 1, encoding a key C-25 hydroxylase that converts vitamin D3 to an active vitamin D receptor ligand; P=1.4x10(-5)). 20418485 2010
dbSNP: rs10741657
rs10741657
Entrez Id: 120227
Gene Symbol: CYP2R1
CYP2R1
CUI: C0919758
Disease:
Vitamin D measurement
A 0.700 GeneticVariation GWASCAT Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels. 29343764 2018
dbSNP: rs117913124
rs117913124
Entrez Id: 120227
Gene Symbol: CYP2R1
CYP2R1
CUI: C0919758
Disease:
Vitamin D measurement
A 0.700 GeneticVariation GWASCAT Genome-Wide Association Study of Serum 25-Hydroxyvitamin D in US Women. 29545823 2018
dbSNP: rs1993116
rs1993116
Entrez Id: 120227
Gene Symbol: CYP2R1
CYP2R1
CUI: C0919758
Disease:
Vitamin D measurement
0.700 GeneticVariation GWASDB Genome-wide association study of circulating vitamin D levels. 20418485 2010