Tag

Vitamin D

42 genetic variants with this tag.

RSID	Gene	Description	Category
rs10745742	AMDHD1	Intronic variant in the histidine-catabolism gene AMDHD1 that influences circ...	Metabolic Enzymes & Rare Disorders	Vitamin D	Strong
rs10766197	CYP2R1	Reduces CYP2R1 promoter activity and hepatic 25-hydroxylase expression, lower...	Vitamin D Metabolism	Vitamin D	Strong
rs10832310	CYP2R1	Intronic tag SNP at the CYP2R1/PDE3B locus on chromosome 11 that marks a hapl...	Vitamin D Metabolism	Vitamin D	Strong
rs1155563	GC	Third independent intronic tag SNP in the vitamin D binding protein gene, inf...	Vitamin D Metabolism	Vitamin D	Strong
rs12785878	DHCR7 Near gene T>G	Influences vitamin D synthesis by regulating how much 7-dehydrocholesterol is...	Vitamin D Metabolism	Vitamin D	Strong
rs16930609	CYP2R1	Upstream regulatory variant in CYP2R1 that tags a haplotype associated with r...	Vitamin D Metabolism	Vitamin D	Moderate
rs1993116	CYP2R1 CYP2R1 rs1993116	Intronic regulatory variant in CYP2R1 that reduces hepatic vitamin D 25-hydro...	Vitamin D Metabolism	Vitamin D	Moderate
rs2060793	CYP2R1	Upstream regulatory variant in CYP2R1 that reduces hepatic 25-hydroxylase exp...	Vitamin D Metabolism	Vitamin D	Strong
rs1426654	SLC24A5 Ala111Thr	Sodium/potassium/calcium exchanger that regulates melanin production in skin ...	Skin & Eyes	Vitamin D	Established
rs2228570	VDR FokI C>T	Vitamin D receptor start codon variant — determines receptor protein length a...	Vitamin D Metabolism	Vitamin D	Strong
rs1151996	PPARG PPARG rs1151996	Intronic PPARG variant significantly associated with circulating vitamin D le...	Fat Storage & Energy	Vitamin D	Moderate
rs12144344	ST6GALNAC3	Intronic variant in sialyltransferase ST6GALNAC3 associated with higher circu...	Metabolic Enzymes & Rare Disorders	Vitamin D	Emerging
rs2282679	GC	Intronic GWAS tag variant in the vitamin D binding protein gene, the stronges...	Vitamin D Metabolism	Vitamin D	Established
rs121918387	APOB ApoB-67 frameshift	Single-nucleotide deletion in APOB creating a truncated apolipoprotein B (Apo...	Cholesterol & Lipoproteins	Vitamin D	Strong
rs2296241	CYP24A1	Synonymous coding variant in CYP24A1 (vitamin D 24-hydroxylase) that tags fun...	Vitamin D Metabolism	Vitamin D	Moderate
rs1805007	MC1R R151C	Strongest "R" allele in the melanocortin-1 receptor, shifting pigment from ph...	Skin & Eyes	Vitamin D	Established
rs3829251	NADSYN1	Intronic NADSYN1 variant at the DHCR7/NADSYN1 vitamin D locus; A allele was t...	Vitamin D Metabolism	Vitamin D	Strong
rs10741657	CYP2R1 promoter variant	Vitamin D activation — converts D3 to 25(OH)D in the liver	Methylation & Detox	Vitamin D	Strong
rs1175540	PPARG PPARG rs1175540	Intronic PPARG variant associated with differential weight loss response to c...	Fat Storage & Energy	Vitamin D	Moderate
rs2104286	IL2RA	Intronic variant affecting IL-2 receptor alpha chain expression and soluble I...	Autoimmune Tolerance & T-Cell Regulation	Vitamin D	Strong
rs4588	GC Thr436Lys	Alters vitamin D binding protein affinity, affecting total and bioavailable 2...	Vitamin D Metabolism	Vitamin D	Strong
rs4752	GC GC rs4752	Synonymous variant in vitamin D binding protein that tags distinct GC haploty...	Vitamin D Metabolism	Vitamin D	Moderate
rs6013897	CYP24A1	Near-gene regulatory variant affecting vitamin D 24-hydroxylase expression — ...	Vitamin D Metabolism	Vitamin D	Strong
rs7041	GC Asp432Glu	Vitamin D binding protein variant that determines VDBP isoform, affecting vit...	Vitamin D Metabolism	Vitamin D	Strong
rs705117	GC	Intronic GC variant independently associated with vitamin D binding protein (...	Vitamin D Metabolism	Vitamin D	Strong
rs2275913	IL17A -197G>A	Promoter variant in the NFAT binding site that increases IL-17A transcription...	TNF, NF-kB & Inflammatory Cytokines	Vitamin D	Strong
rs7936142	CYP2R1 CYP2R1 rs7936142	Intronic variant in the primary hepatic vitamin D 25-hydroxylase gene associa...	Vitamin D Metabolism	Vitamin D	Moderate
rs7940244	NADSYN1 Near DHCR7	Intronic NADSYN1 variant in the DHCR7/NADSYN1 vitamin D locus; T allele tags ...	Vitamin D Metabolism	Vitamin D	Strong
rs1800012	COL1A1 Sp1 Binding Site	Sp1 transcription factor binding site polymorphism affecting collagen product...	Fitness & Body	Vitamin D	Strong
rs7944926	DHCR7	Near-gene intronic variant in the DHCR7/NADSYN1 locus on chromosome 11 that t...	Vitamin D Metabolism	Vitamin D	Strong
rs842999	GC	Intronic GC variant tagging a haplotype associated with lower circulating 25-...	Vitamin D Metabolism	Vitamin D	Moderate
rs12936231	ORMDL3 ORMDL3 17q21 eQTL	Regulatory tagging SNP in the 17q21 asthma locus that is the strongest eQTL f...	Allergy & Atopic Disease	Vitamin D	Strong
rs3134883	IL2RA	Intronic IL2RA variant independently associated with rheumatoid arthritis ris...	Autoimmune Tolerance & T-Cell Regulation	Vitamin D	Strong
rs1544410	VDR BsmI	Vitamin D receptor — affects how well vitamin D activates cellular processes	Methylation & Detox	Vitamin D	Moderate
rs2908004	WNT16 Gly82Arg	Missense variant in WNT16 that substitutes glycine for arginine at position 8...	Fitness & Body	Vitamin D	Strong
rs3736228	LRP5 A1330V	Wnt signaling co-receptor variant affecting bone mineral density and fracture...	Fitness & Body	Vitamin D	Strong
rs3801387	WNT16	Intronic variant affecting cortical bone thickness, bone mineral density, and...	Fitness & Body	Vitamin D	Established
rs8018720	SEC23A	Missense variant in the COPII vesicle coat protein SEC23A, associated with ci...	Metabolic Enzymes & Rare Disorders	Vitamin D	Emerging
rs4988321	LRP5 Val667Met	Missense variant in LRP5 that substitutes valine for methionine at position 6...	Fitness & Body	Vitamin D	Moderate
rs2943641	IRS1 Near-gene C>T	Regulates insulin signaling efficiency and cellular glucose uptake	Blood Sugar & Diabetes	Vitamin D	Strong
rs9594759	TNFSF11	Regulatory variant in the RANKL gene affecting bone mineral density and osteo...	Fitness & Body	Vitamin D	Strong
rs3135388	HLA-DRA Tag for DRB1*15:01	Tag SNP for HLA-DRB1*15:01 (physically located near HLA-DRA), the strongest g...	Neurology & Cognition	Vitamin D	Established