Tag

Energy Metabolism

79 genetic variants with this tag.

RSID	Gene	Description	Category
rs11235972	UCP3	Intronic UCP3 variant associated with skeletal muscle fat oxidation capacity,...	Liver Fat	Energy Metabolism	Moderate
rs10515237	PCSK1 PCSK1 A/G (rs10515237)	Intronic variant in PCSK1 that tags the Q665E-S690T functional haplotype, red...	Appetite & Obesity	Energy Metabolism	Moderate
rs1064608	MTCH2 Pro290Ala	Missense variant in MTCH2 that reduces mitochondrial metabolic efficiency, in...	Hormones & Sleep	Energy Metabolism	Moderate
rs118204015	ACADVL	Likely-pathogenic VLCAD missense variant abolishing enzyme activity — carrier...	Liver Fat	Energy Metabolism	Strong
rs115532916	ACAD9 ACAD9 Ala326Pro	Pathogenic missense variant in acyl-CoA dehydrogenase family member 9, causin...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Strong
rs118204017	ACADVL	ACADVL missense variant (p.Phe458Leu) classified likely pathogenic for VLCAD ...	Liver Fat	Energy Metabolism	Strong
rs1044498	ENPP1 K121Q	ENPP1 K121Q variant that increases ENPP1 binding affinity to the insulin rece...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs10838738	MTCH2	Intronic GWAS obesity variant in MTCH2 — affects mitochondrial energy balance...	Appetite & Obesity	Energy Metabolism	Moderate
rs104894005	GCK Glu279Ter (MODY2)	Pathogenic glucokinase nonsense variant introducing a premature stop codon th...	Blood Sugar & Diabetes	Energy Metabolism	Established
rs119103258	PYGM	Pathogenic missense variant in muscle glycogen phosphorylase causing post-tra...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Established
rs11037909	EXT2	Intronic EXT2 variant associated with a modest increase in type 2 diabetes su...	Appetite & Obesity	Energy Metabolism	Moderate
rs121434280	ACADM ACADM Y67H	Pathogenic missense variant in the MCAD enzyme causing a temperature-sensitiv...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Strong
rs104894008	GCK Gly261Arg (MODY2)	Pathogenic glucokinase missense variant that nearly abolishes enzyme activity...	Blood Sugar & Diabetes	Energy Metabolism	Established
rs121434281	ACADM S245L	Rare pathogenic missense variant in the ACADM gene (p.Ser245Leu) causing medi...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Established
rs104894009	GCK Arg191Trp (MODY2)	Pathogenic glucokinase missense variant that raises the beta-cell glucose sen...	Blood Sugar & Diabetes	Energy Metabolism	Established
rs11061946	ADIPOR2	Intronic variant in the adiponectin receptor 2 gene; rare homozygotes showed ...	Fat Storage & Energy	Energy Metabolism	Emerging
rs121434282	ACADM Arg281Thr	Pathogenic missense variant in the MCAD enzyme causing medium-chain acyl-CoA ...	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
rs12640088	PPARGC1A	Intronic variant in PPARGC1A that may modulate PGC-1alpha expression and mito...	Fitness & Body	Energy Metabolism	Emerging
rs10811661	CDKN2B	Regulatory variant upstream of CDKN2A/CDKN2B at the 9p21 locus; the T risk al...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs1152003	PPARG	PPARG 3'-flanking region variant — the G allele independently tags a PPARG re...	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
rs116862713	PRKAB1	Rare AMPK beta-1 subunit variant linking central energy sensing to shared mig...	Fat Storage & Energy	Energy Metabolism	Emerging
rs137852769	HADHA p.Glu510Gln	Most common LCHAD deficiency variant; homozygosity causes severe mitochondria...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Established
rs10954640	ENPP1 ENPP1 3'UTR Variant	Intergenic variant near ENPP1-associated regulatory loci; T allele is associa...	Blood Sugar & Diabetes	Energy Metabolism	Emerging
rs515726176	CPT2	Rare CPT2 missense variant (p.Arg382Thr) that reduces carnitine palmitoyltran...	Liver Fat	Energy Metabolism	Moderate
rs1143699	PTPRS PTPRS C/T (rs1143699)	Synonymous PTPRS variant associated with increased type 2 diabetes risk in me...	Blood Sugar & Diabetes	Energy Metabolism	Moderate
rs1175544	PPARG PPARG rs1175544	Intronic PPARG variant that accounts for ~7% of individual variation in body ...	Fat Storage & Energy	Energy Metabolism	Emerging
rs142967670	GCDH R88C	Pathogenic missense variant in glutaryl-CoA dehydrogenase; homozygosity cause...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Established
rs184660829	DENND2C	Rare intronic variant near a DENND2C splice site associated with an 8-fold in...	Appetite & Obesity	Energy Metabolism	Moderate
rs12094543	ZMYM4 ZMYM4 rs12094543	Intronic variant in ZMYM4, a chromatin-remodeling transcription factor whose ...	Fat Storage & Energy	Energy Metabolism	Emerging
rs1799958	ACADS G209S (c.625G>A)	Common missense variant in ACADS encoding short-chain acyl-CoA dehydrogenase;...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Established
rs1943226	MC4R MC4R third tagSNP	Upstream regulatory tag variant ~3 kb proximal to MC4R, included in MC4R hapl...	Appetite & Obesity	Energy Metabolism	Emerging
rs11705701	IGF2BP2 IGF2BP2 Insulin Signaling Variant	Upstream regulatory variant in IGF2BP2 that shifts mRNA isoform balance in ad...	Blood Sugar & Diabetes	Energy Metabolism	Moderate
rs12304921	SLC11A2	Intronic variant in SLC11A2 (DMT1), the primary intestinal iron transporter, ...	Fat Storage & Energy	Energy Metabolism	Emerging
rs17602729	AMPD1 C34T (Q12X)	Enzyme critical for energy production during high-intensity exercise; deficie...	Fitness & Body	Energy Metabolism	Strong
rs11708067	ADCY5 ADCY5 Glucose Signaling Variant	Intronic regulatory variant that reduces ADCY5 expression in pancreatic islet...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs6536991	UCP1	Intronic UCP1 variant — the C allele is associated with reduced overweight ri...	Liver Fat	Energy Metabolism	Emerging
rs12243326	TCF7L2 TCF7L2 Incretin Response Depth Variant	Intronic TCF7L2 depth variant replicated across multiple populations as a sec...	Blood Sugar & Diabetes	Energy Metabolism	Moderate
rs200788251	ACADVL ACADVL p.Gly289Arg	Pathogenic missense variant in ACADVL encoding VLCAD; heterozygous carriers a...	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
rs201065226	CPT2 p.Arg124Ter (R124X)	Rare stop-gain variant in CPT2 abolishing carnitine palmitoyltransferase II, ...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Strong
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
rs12610022	INSR	Intronic INSR variant that may alter insulin receptor expression or isoform b...	Blood Sugar & Diabetes	Energy Metabolism	Emerging
rs2034650	IVD	Intronic regulatory variant in IVD (isovaleryl-CoA dehydrogenase) associated ...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Emerging
rs17036314	PPARG	Intronic PPARG variant — carriers of the C allele have elevated fasting gluco...	Fat Storage & Energy	Energy Metabolism	Moderate
rs267606898	MT-ND5	Heteroplasmic missense variant in the mitochondrially encoded ND5 subunit of ...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Strong
rs1402837	G6PC2 G6PC2 Fasting Glucose Variant	Upstream regulatory variant in G6PC2 that modulates pancreatic beta-cell gluc...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs267606993	PYGM PYGM Met1Val (start-loss)	Pathogenic start-codon variant in muscle glycogen phosphorylase; homozygous o...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Established
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
rs6232	PCSK1 PCSK1 N221D (Asn221Asp)	Missense variant in PCSK1 encoding an Asn221Asp substitution near the Ca-1 ca...	Appetite & Obesity	Energy Metabolism	Strong
rs6234	PCSK1 PCSK1 Q665E (Gln665Glu)	Missense variant in PCSK1 that causes a Gln665Glu substitution in the C-termi...	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
rs6235	PCSK1 PCSK1 S690T (Ser690Thr)	Missense variant encoding the Ser690Thr substitution in the C-terminal domain...	Appetite & Obesity	Energy Metabolism	Strong
rs1799999	PPP1R3A Asp905Tyr	Missense variant in the skeletal muscle glycogen-targeting subunit of protein...	Blood Sugar & Diabetes	Energy Metabolism	Moderate
rs2279525	PPARGC1A PPARGC1A 3' UTR metabolic association variant	3' UTR variant in the PGC-1alpha gene that may alter PPARGC1A mRNA stability ...	Fat Storage & Energy	Energy Metabolism	Emerging
rs387906249	ACADVL c.343del (p.Glu115Lysfs*2)	Pathogenic ACADVL frameshift deletion causing premature protein truncation; h...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Established
rs66791338	IVD 5-bp IVD regulatory region indel	Intronic 5-bp indel (AAAGG) in the IVD regulatory region that is the primary ...	Metabolic Enzymes & Rare Disorders	Energy Metabolism	Moderate
rs1801278	IRS1 Gly972Arg (G972R)	Missense variant in insulin receptor substrate 1 that impairs tyrosine phosph...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs1884613	HNF4A HNF4A P2 Promoter T2D Variant	Intronic variant tagging the HNF4A P2 promoter risk haplotype; the G allele s...	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
rs2233580	PAX4 Arg192His	Missense variant that impairs PAX4's ability to repress insulin and glucagon ...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs2959272	PPARG PPARG intronic calorie-restriction trial variant	Intronic PPARG variant significantly associated with individual variation in ...	Fat Storage & Energy	Energy Metabolism	Emerging
rs2237886	KCNQ1 KCNQ1 Potassium Channel Diabetes Variant	Intronic variant in KCNQ1's imprinted region, tagging the same LD block as es...	Blood Sugar & Diabetes	Energy Metabolism	Moderate
rs358806	WNT5A	Regulatory variant near WNT5A linked to type 2 diabetes risk via impaired Wnt...	Fat Storage & Energy	Energy Metabolism	Moderate
rs8087522	MC4R MC4R A/G (rs8087522)	Upstream regulatory variant near MC4R that may create a transcription factor ...	Appetite & Obesity	Energy Metabolism	Emerging
rs3734254	PPARD T+294C	PPARD 3'UTR variant that reduces fatty acid oxidation capacity and blunts the...	Fat Storage & Energy	Energy Metabolism	Moderate
rs2295490	TRIB3 Q84R	TRIB3 pseudokinase missense variant that increases Akt inhibition, impairing ...	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
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 intronic variant near glucokinase that raises fasting glucose by impai...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs6981587	ANK1 ANK1 small-ankyrin T2D locus variant	Intronic ANK1 variant at the NKX6-3/ANK1 type 2 diabetes locus; the T allele ...	Fat Storage & Energy	Energy Metabolism	Moderate
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
rs6031551	HNF4A HNF4A Regulatory Variant	Intronic variant 80 bp from rs6031552 within the HNF4A P2 promoter haplotype ...	Blood Sugar & Diabetes	Energy Metabolism	Emerging
rs6031552	HNF4A HNF4A Regulatory Variant	Intronic variant tagging the HNF4A P2 promoter haplotype; carriers have modes...	Blood Sugar & Diabetes	Energy Metabolism	Moderate
rs56051278	GPD2	Intronic variant in GPD2 (mitochondrial glycerol-3-phosphate dehydrogenase), ...	Neurology & Cognition	Energy Metabolism	Strong
rs7202877	CTRB1	Intergenic variant near CTRB1/CTRB2 that regulates chymotrypsinogen expressio...	Blood Sugar & Diabetes	Energy Metabolism	Strong
rs914458	PTPN1 PTPN1 downstream variant	Downstream regulatory variant 10 kb 3' of PTPN1 (PTP1B) associated with type ...	Blood Sugar & Diabetes	Energy Metabolism	Emerging