Tag

Metabolism

17 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	Metabolism	Strong
rs11206244	DIO1 C785T	Common variant in the 3' UTR of the DIO1 gene affecting thyroid hormone metab...	Hormones & Sleep	Metabolism	Strong
rs11549465	HIF1A Pro582Ser	Master regulator of cellular oxygen response influencing endurance capacity, ...	Fitness & Body	Metabolism	Strong
rs225011	DIO2	Intronic DIO2 variant nominally associated with Graves' disease susceptibilit...	Vitamin D Metabolism	Metabolism	Emerging
rs121434369	GCDH R402W (Arg402Trp)	Most common European allele for glutaric acidemia type 1; complete loss of GC...	Metabolic Enzymes & Rare Disorders	Metabolism	Established
rs11605924	CRY2 Intron Variant	Circadian clock gene variant affecting fasting glucose, hepatic lipid metabol...	Hormones & Sleep	Metabolism	Strong
rs121908677	SLC7A7 SLC7A7 p.Gly54Val	Pathogenic missense variant in the y+LAT1 cationic amino acid transporter; ho...	Metabolic Enzymes & Rare Disorders	Metabolism	Established
rs142967670	GCDH R88C	Pathogenic missense variant in glutaryl-CoA dehydrogenase; homozygosity cause...	Metabolic Enzymes & Rare Disorders	Metabolism	Established
rs6742078	UGT1A10	Intronic variant in the UGT1A gene cluster (chromosome 2q37) strongly associa...	Uric Acid & Kidney Function	Metabolism	Strong
rs1991517	TSHR Asp727Glu	Affects TSH receptor sensitivity and thyroid hormone regulation; influences T...	Hormones & Sleep	Metabolism	Strong
rs397507172	BTD	Rare missense variant near the BTD active site (p.Val89Gly) that likely reduc...	Vitamins & Nutrient Absorption	Metabolism	Emerging
rs225014	DIO2 Thr92Ala	Affects conversion of inactive T4 to active T3 thyroid hormone in brain, pitu...	Hormones & Sleep	Metabolism	Strong
rs2287161	CRY1 3' Downstream G>C	Cryptochrome 1 circadian gene variant influencing glucose metabolism, sleep t...	Hormones & Sleep	Metabolism	Strong
rs35333999	PER2 V903I	Missense variant in core circadian clock gene PER2 that lengthens intrinsic c...	Hormones & Sleep	Metabolism	Strong
rs7061710	FMO3	Intronic FMO3 variant associated with reduced hepatic oxidation of garlic-der...	Vitamins & Nutrient Absorption	Metabolism	Moderate
rs6885099	PDE8B PDE8B TSH variant	Intronic TSH quantitative trait locus in phosphodiesterase 8B — the G allele ...	Hormones & Sleep	Metabolism	Strong
rs757081	NUCB2 Gln338Glu (Q338E)	Missense variant in nucleobindin-2, the precursor protein cleaved to produce ...	Hormones & Sleep	Metabolism	Moderate