Tag

Energy Metabolism

44 genetic variants with this tag.

RSID	Gene	Description	Category
rs118204015	ACADVL	Likely-pathogenic VLCAD missense variant abolishing enzyme activity — carrier...	Liver Fat	Energy Metabolism	Strong
rs10515237	PCSK1 PCSK1 A/G (rs10515237)	Intronic variant in PCSK1 that tags the Q665E-S690T functional haplotype	Appetite & Obesity	Energy Metabolism	Moderate
rs118204017	ACADVL	ACADVL missense variant (p.Phe458Leu) classified likely pathogenic for VLCAD ...	Liver Fat	Energy Metabolism	Strong
rs10838738	MTCH2	Intronic GWAS obesity variant in MTCH2 — affects mitochondrial energy balance...	Appetite & Obesity	Energy Metabolism	Moderate
rs1044498	ENPP1 K121Q	ENPP1 K121Q variant that increases ENPP1 binding affinity to the insulin rece...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs11061946	ADIPOR2	Intronic variant in the adiponectin receptor 2 gene; rare homozygotes showed ...	Fat Storage & Energy	Energy Metabolism	Emerging
rs104894008	GCK Gly261Arg (MODY2)	Pathogenic glucokinase missense variant that nearly abolishes enzyme activity...	Blood Sugar & Diabetes	Energy Metabolism	Established
rs116862713	PRKAB1	Rare AMPK beta-1 subunit variant linking central energy sensing to shared mig...	Fat Storage & Energy	Energy Metabolism	Emerging
rs119103258	PYGM	Pathogenic missense variant in muscle glycogen phosphorylase causing post-tra...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Established
rs1175544	PPARG PPARG rs1175544	Intronic PPARG variant that accounts for ~7% of individual variation in body ...	Fat Storage & Energy	Energy Metabolism	Emerging
rs121434280	ACADM ACADM Y67H	Pathogenic missense variant in the MCAD enzyme causing a temperature-sensitiv...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Strong
rs10811661	CDKN2B	Regulatory variant upstream of CDKN2A/CDKN2B at the 9p21 locus; the T risk al...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs121434281	ACADM S245L	Rare pathogenic missense variant in the ACADM gene (p.Ser245Leu) causing medi...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Established
rs121434369	GCDH R402W (Arg402Trp)	Most common European allele for glutaric acidemia type 1; complete loss of GC...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Established
rs13412852	LPIN1	Intronic variant in LPIN1 (lipin-1) associated with liver fat accumulation an...	Fat Storage & Energy	Energy Metabolism	Emerging
rs10885406	TCF7L2 TCF7L2 Wnt Signaling Depth Variant	Intronic TCF7L2 variant tagging the diabetes-risk haplotype and associated wi...	Blood Sugar & Diabetes	Energy Metabolism	Moderate
rs1943226	MC4R MC4R third tagSNP	Upstream regulatory tag variant ~3 kb proximal to MC4R, included in MC4R hapl...	Appetite & Obesity	Energy Metabolism	Emerging
rs17602729	AMPD1 C34T (Q12X)	Enzyme critical for energy production during high-intensity exercise; deficie...	Fitness & Body	Energy Metabolism	Strong
rs1799958	ACADS G209S (c.625G>A)	Common missense variant in ACADS encoding short-chain acyl-CoA dehydrogenase;...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Established
rs2867125	TMEM18 TMEM18 regulatory variant (2p25.3)	Regulatory variant at the TMEM18 locus on chromosome 2p25.3 — one of the most...	Appetite & Obesity	Energy Metabolism	Strong
rs11705701	IGF2BP2 IGF2BP2 Insulin Signaling Variant	Upstream regulatory variant in IGF2BP2 that shifts mRNA isoform balance in ad...	Blood Sugar & Diabetes	Energy Metabolism	Moderate
rs6536991	UCP1	Intronic UCP1 variant — the C allele is associated with reduced overweight ri...	Liver Fat	Energy Metabolism	Emerging
rs11708067	ADCY5 ADCY5 Glucose Signaling Variant	Intronic regulatory variant that reduces ADCY5 expression in pancreatic islet...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs12243326	TCF7L2 TCF7L2 Incretin Response Depth Variant	Intronic TCF7L2 depth variant replicated across multiple populations as a sec...	Blood Sugar & Diabetes	Energy Metabolism	Moderate
rs267606898	MT-ND5	Heteroplasmic missense variant in the mitochondrially encoded ND5 subunit of ...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Strong
rs12610022	INSR	Intronic INSR variant that may alter insulin receptor expression or isoform b...	Blood Sugar & Diabetes	Energy Metabolism	Emerging
rs2959272	PPARG PPARG intronic calorie-restriction trial variant	Intronic PPARG variant significantly associated with individual variation in ...	Fat Storage & Energy	Energy Metabolism	Emerging
rs1571583	GLIS3 GLIS3 Beta Cell Development Variant	Intronic GLIS3 variant in which the rare A allele modestly elevates TSH, refl...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs3734254	PPARD T+294C	PPARD 3'UTR variant that reduces fatty acid oxidation capacity and blunts the...	Fat Storage & Energy	Energy Metabolism	Moderate
rs6232	PCSK1 PCSK1 N221D (Asn221Asp)	Missense variant in PCSK1 encoding an Asn221Asp substitution near the Ca-1 ca...	Appetite & Obesity	Energy Metabolism	Strong
rs377022708	ACAD9 Arg532Trp (R532W)	Pathogenic missense variant in the ACAD9 complex I assembly factor causing se...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Strong
rs1799999	PPP1R3A Asp905Tyr	Missense variant in the skeletal muscle glycogen-targeting subunit of protein...	Blood Sugar & Diabetes	Energy Metabolism	Moderate
rs74315294	CPT2 p.Ser113Leu (S113L)	Missense variant in CPT2 that destabilizes the carnitine palmitoyltransferase...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Established
rs1801278	IRS1 Gly972Arg (G972R)	Missense variant in insulin receptor substrate 1 that impairs tyrosine phosph...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs77931234	ACADM c.985A>G (p.Lys329Glu)	Pathogenic missense variant in ACADM reducing MCAD enzyme activity, predispos...	Cardiomyopathy & Structural Heart	Energy Metabolism	Established
rs8087522	MC4R MC4R A/G (rs8087522)	Upstream regulatory variant near MC4R that may create a transcription factor ...	Appetite & Obesity	Energy Metabolism	Emerging
rs2233580	PAX4 Arg192His	Missense variant that impairs PAX4's ability to repress insulin and glucagon ...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs2295490	TRIB3 Q84R	TRIB3 pseudokinase missense variant that increases Akt inhibition, impairing ...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs397514580	GCK GCK MODY2 E339K	Pathogenic glucokinase missense variant causing maturity-onset diabetes of th...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs4607517	GCK GCK fasting glucose GWAS variant	Common variant near glucokinase that raises fasting glucose by impairing the ...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs4812829	HNF4A HNF4A Intronic T2D Risk Variant	Common intronic variant in HNF4A associated with modestly elevated type 2 dia...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs6017340	HNF4A HNF4A Regulatory Variant	Intronic HNF4A tag SNP associated with altered bile acid synthesis regulation...	Blood Sugar & Diabetes	Energy Metabolism	Emerging
rs7202877	CTRB1	Intergenic variant near CTRB1/CTRB2 that regulates chymotrypsinogen expressio...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs56051278	GPD2	Intronic variant in GPD2 (mitochondrial glycerol-3-phosphate dehydrogenase), ...	Neurology & Cognition	Energy Metabolism	Strong