Tag

Bone Health

33 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
rs1155563	GC	Intronic tag SNP in the vitamin D binding protein gene, influencing circulati...	Vitamin D Metabolism	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
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
rs16930609	CYP2R1	Upstream regulatory variant in CYP2R1 that tags a haplotype associated with r...	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
rs1993116	CYP2R1 CYP2R1 rs1993116	Intronic regulatory variant in CYP2R1 that reduces hepatic vitamin D 25-hydro...	Vitamin D Metabolism	Bone Health	Moderate
rs2060793	CYP2R1	Upstream regulatory variant in CYP2R1 that reduces hepatic 25-hydroxylase exp...	Vitamin D Metabolism	Bone Health	Strong
rs12946942	SOX9	Intergenic variant in the SOX9 upstream regulatory region on chromosome 17q24...	Innate Immunity & Infection Defense	Bone Health	Strong
rs1420318	FTO	FTO intron 8 variant associated with nominal spine bone mineral density effec...	Fitness & Body	Bone Health	Emerging
rs2228570	VDR FokI C>T	Vitamin D receptor start codon variant — determines receptor protein length a...	Vitamin D Metabolism	Bone Health	Strong
rs12086634	HSD11B1 Intron 3 variant	Modulates local cortisol activation from cortisone in liver and adipose tissu...	Hormones & Sleep	Bone Health	Moderate
rs12144344	ST6GALNAC3	Intronic variant in sialyltransferase ST6GALNAC3 associated with higher circu...	Metabolic Enzymes & Rare Disorders	Bone Health	Emerging
rs121908677	SLC7A7 SLC7A7 p.Gly54Val	Pathogenic missense variant in the y+LAT1 cationic amino acid transporter; ho...	Metabolic Enzymes & Rare Disorders	Bone Health	Established
rs2282679	GC	Intronic GWAS tag variant in the vitamin D binding protein gene, the stronges...	Vitamin D Metabolism	Bone Health	Established
rs3829251	NADSYN1	Intronic NADSYN1 variant at the DHCR7/NADSYN1 vitamin D locus; A allele was t...	Vitamin D Metabolism	Bone Health	Strong
rs4588	GC Thr436Lys	Alters vitamin D binding protein affinity, affecting total and bioavailable 2...	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
rs4752	GC GC rs4752	Synonymous variant in vitamin D binding protein that tags distinct GC haploty...	Vitamin D Metabolism	Bone Health	Moderate
rs7041	GC Asp432Glu	Vitamin D binding protein variant that determines VDBP isoform, affecting vit...	Vitamin D Metabolism	Bone Health	Strong
rs7940244	NADSYN1 Near DHCR7	Intronic NADSYN1 variant in the DHCR7/NADSYN1 vitamin D locus; T allele tags ...	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
rs7944926	DHCR7	Near-gene intronic variant in the DHCR7/NADSYN1 locus on chromosome 11 that t...	Vitamin D Metabolism	Bone Health	Strong
rs1544410	VDR BsmI	Vitamin D receptor — affects how well vitamin D activates cellular processes	Methylation & Detox	Bone Health	Moderate
rs2908004	WNT16 Gly82Arg	Missense variant in WNT16 that substitutes glycine for arginine at position 8...	Fitness & Body	Bone Health	Strong
rs727479	CYP19A1	Intronic eQTL variant in the aromatase gene CYP19A1; the minor C allele is th...	Reproductive Hormones	Bone Health	Strong
rs1934951	CYP2C8	Intronic CYP2C8 variant associated with paclitaxel-induced toxicity and bisph...	Pharmacogenomics	Bone Health	Moderate
rs2234693	ESR1 PvuII	Estrogen receptor alpha intron variant affecting receptor expression and estr...	Hormones & Sleep	Bone Health	Moderate
rs72552272	SLC7A7 L334R	Pathogenic missense in the y+LAT1 cationic amino acid transporter causing lys...	Metabolic Enzymes & Rare Disorders	Bone Health	Established
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 associated with bisphosphonate-related jaw complicati...	Pharmacogenomics	Bone Health	Moderate
rs4988321	LRP5 Val667Met	Missense variant in LRP5 that substitutes valine for methionine at position 6...	Fitness & Body	Bone Health	Moderate