Tag

Bone Health

47 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	Bone Health	Strong
rs10766197	CYP2R1	Reduces CYP2R1 promoter activity and hepatic 25-hydroxylase expression, lower...	Vitamin D Metabolism	Bone Health	Strong
rs1062033	CYP19A1	Intronic regulatory polymorphism in the aromatase gene affecting CYP19A1 tran...	Hormones & Sleep	Bone Health	Moderate
rs10832310	CYP2R1	Intronic tag SNP at the CYP2R1/PDE3B locus on chromosome 11 that marks a hapl...	Vitamin D Metabolism	Bone Health	Strong
rs1155563	GC	Third independent intronic tag SNP in the vitamin D binding protein gene, inf...	Vitamin D Metabolism	Bone Health	Strong
rs1537415	GLT6D1	Intronic variant in GLT6D1 reducing GATA-3 transcription factor binding in T ...	Dental & Oral Health	Bone Health	Strong
rs12785878	DHCR7 Near gene T>G	Influences vitamin D synthesis by regulating how much 7-dehydrocholesterol is...	Vitamin D Metabolism	Bone Health	Strong
rs17878486	AMELX	Intronic variant in amelogenin X-linked gene affecting enamel mineralization ...	Dental & Oral Health	Bone Health	Moderate
rs16930609	CYP2R1	Upstream regulatory variant in CYP2R1 that tags a haplotype associated with r...	Vitamin D Metabolism	Bone Health	Moderate
rs1993116	CYP2R1 CYP2R1 rs1993116	Intronic regulatory variant in CYP2R1 that reduces hepatic vitamin D 25-hydro...	Vitamin D Metabolism	Bone Health	Moderate
rs2235091	KLK4	Intronic variant in kallikrein-4 that encodes the enamel maturation protease;...	Dental & Oral Health	Bone Health	Moderate
rs1108086	FTO FTO Intron 8 T>C	An FTO intron-8 variant in the same haplotype block as rs1420318, with emergi...	Fitness & Body	Bone Health	Emerging
rs2060793	CYP2R1	Upstream regulatory variant in CYP2R1 that reduces hepatic 25-hydroxylase exp...	Vitamin D Metabolism	Bone Health	Strong
rs2228570	VDR FokI C>T	Vitamin D receptor start codon variant — determines receptor protein length a...	Vitamin D Metabolism	Bone Health	Strong
rs1159327	ESR1 ESR1 intron variant	Intronic variant in estrogen receptor alpha associated with bone mineral dens...	Reproductive Hormones	Bone Health	Moderate
rs12946942	SOX9	Intergenic variant in the SOX9 upstream regulatory region on chromosome 17q24...	Innate Immunity & Infection Defense	Bone Health	Strong
rs12144344	ST6GALNAC3	Intronic variant in sialyltransferase ST6GALNAC3 associated with higher circu...	Metabolic Enzymes & Rare Disorders	Bone Health	Emerging
rs2282679	GC	Intronic GWAS tag variant in the vitamin D binding protein gene, the stronges...	Vitamin D Metabolism	Bone Health	Established
rs121908677	SLC7A7 SLC7A7 p.Gly54Val	Pathogenic missense variant in the y+LAT1 cationic amino acid transporter; ho...	Metabolic Enzymes & Rare Disorders	Bone Health	Established
rs12086634	HSD11B1 Intron 3 variant	Modulates local cortisol activation from cortisone in liver and adipose tissu...	Hormones & Sleep	Bone Health	Moderate
rs1420318	FTO	FTO intron 8 variant associated with nominal spine bone mineral density effec...	Fitness & Body	Bone Health	Emerging
rs3829251	NADSYN1	Intronic NADSYN1 variant at the DHCR7/NADSYN1 vitamin D locus; A allele was t...	Vitamin D Metabolism	Bone Health	Strong
rs10741657	CYP2R1 promoter variant	Vitamin D activation — converts D3 to 25(OH)D in the liver	Methylation & Detox	Bone Health	Strong
rs4588	GC Thr436Lys	Alters vitamin D binding protein affinity, affecting total and bioavailable 2...	Vitamin D Metabolism	Bone Health	Strong
rs4752	GC GC rs4752	Synonymous variant in vitamin D binding protein that tags distinct GC haploty...	Vitamin D Metabolism	Bone Health	Moderate
rs6013897	CYP24A1	Near-gene regulatory variant affecting vitamin D 24-hydroxylase expression — ...	Vitamin D Metabolism	Bone Health	Strong
rs7041	GC Asp432Glu	Vitamin D binding protein variant that determines VDBP isoform, affecting vit...	Vitamin D Metabolism	Bone Health	Strong
rs705117	GC	Intronic GC variant independently associated with vitamin D binding protein (...	Vitamin D Metabolism	Bone Health	Strong
rs2206949	ESR1 ESR1 Intronic Endometriosis Variant	Intronic variant in the estrogen receptor alpha gene at the 6q25.1 locus inde...	Endometriosis & Uterine Health	Bone Health	Moderate
rs7936142	CYP2R1 CYP2R1 rs7936142	Intronic variant in the primary hepatic vitamin D 25-hydroxylase gene associa...	Vitamin D Metabolism	Bone Health	Moderate
rs7940244	NADSYN1 Near DHCR7	Intronic NADSYN1 variant in the DHCR7/NADSYN1 vitamin D locus; T allele tags ...	Vitamin D Metabolism	Bone Health	Strong
rs7944926	DHCR7	Near-gene intronic variant in the DHCR7/NADSYN1 locus on chromosome 11 that t...	Vitamin D Metabolism	Bone Health	Strong
rs4810485	CD40	Intronic variant in CD40 regulating B-cell surface expression; the G allele d...	B-Cell Immunity & Antibody-Mediated Disease	Bone Health	Strong
rs842999	GC	Intronic GC variant tagging a haplotype associated with lower circulating 25-...	Vitamin D Metabolism	Bone Health	Moderate
rs4775936	CYP19A1 CYP19A1 Promoter Region Variant (Aro1)	Regulatory variant in the CYP19A1 aromatase gene that alters estrogen biosynt...	Reproductive Hormones	Bone Health	Moderate
rs1544410	VDR BsmI	Vitamin D receptor — affects how well vitamin D activates cellular processes	Methylation & Detox	Bone Health	Moderate
rs1934951	CYP2C8	Intronic CYP2C8 variant associated with paclitaxel-induced toxicity and bisph...	Pharmacogenomics	Bone Health	Moderate
rs1991517	TSHR Asp727Glu	Affects TSH receptor sensitivity and thyroid hormone regulation; influences T...	Hormones & Sleep	Bone Health	Strong
rs727479	CYP19A1	Intronic eQTL variant in the aromatase gene CYP19A1; the minor C allele is th...	Reproductive Hormones	Bone Health	Strong
rs6557160	CCDC170/ESR1	Intergenic 6q25.1 variant between CCDC170 and ESR1; the C allele is an eQTL f...	Endometriosis & Uterine Health	Bone Health	Strong
rs1934980	CYP2C8	Intronic CYP2C8 variant linked to altered enzyme expression and associated wi...	Pharmacogenomics	Bone Health	Moderate
rs2234693	ESR1 PvuII	Estrogen receptor alpha intron variant affecting receptor expression and estr...	Hormones & Sleep	Bone Health	Moderate
rs2908004	WNT16 Gly82Arg	Missense variant in WNT16 that substitutes glycine for arginine at position 8...	Fitness & Body	Bone Health	Strong
rs72552272	SLC7A7 L334R	Pathogenic missense in the y+LAT1 cationic amino acid transporter causing lys...	Metabolic Enzymes & Rare Disorders	Bone Health	Established
rs8018720	SEC23A	Missense variant in the COPII vesicle coat protein SEC23A, associated with ci...	Metabolic Enzymes & Rare Disorders	Bone Health	Emerging
rs4988321	LRP5 Val667Met	Missense variant in LRP5 that substitutes valine for methionine at position 6...	Fitness & Body	Bone Health	Moderate
rs700518	CYP19A1 Val80	Synonymous variant in aromatase gene affecting estrogen production, bone dens...	Hormones & Sleep	Bone Health	Strong