Research
Tag

Metabolism

11 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 Strong
rs11206244 DIO1 C785T Common variant in the 3' UTR of the DIO1 gene affecting thyroid hormone metab... Hormones & Sleep Strong
rs11605924 CRY2 Intron Variant Circadian clock gene variant affecting fasting glucose, hepatic lipid metabol... Hormones & Sleep Strong
rs121434369 GCDH R402W (Arg402Trp) Most common European allele for glutaric acidemia type 1; complete loss of GC... Metabolic Enzymes & Rare Disorders Established
rs225011 DIO2 Intronic DIO2 variant nominally associated with Graves' disease susceptibilit... Vitamin D Metabolism Emerging
rs121908677 SLC7A7 SLC7A7 p.Gly54Val Pathogenic missense variant in the y+LAT1 cationic amino acid transporter; ho... Metabolic Enzymes & Rare Disorders Established
rs6742078 UGT1A10 Intronic variant in the UGT1A gene cluster (chromosome 2q37) strongly associa... Uric Acid & Kidney Function Strong
rs397507172 BTD Rare missense variant near the BTD active site (p.Val89Gly) that likely reduc... Vitamins & Nutrient Absorption Emerging
rs225014 DIO2 Thr92Ala Affects conversion of inactive T4 to active T3 thyroid hormone in brain, pitu... Hormones & Sleep Strong
rs35333999 PER2 V903I Missense variant in core circadian clock gene PER2 that lengthens intrinsic c... Hormones & Sleep Strong
rs6885099 PDE8B PDE8B TSH variant Intronic TSH quantitative trait locus in phosphodiesterase 8B — the G allele ... Hormones & Sleep Strong