Tag

Mitochondria

45 genetic variants with this tag.

RSID	Gene	Description	Category
rs1042522	TP53 Pro72Arg	p53 codon 72 polymorphism producing two functionally distinct proteins — Arg7...	Longevity & Aging	Mitochondria	Strong
rs11235972	UCP3	Intronic UCP3 variant associated with skeletal muscle fat oxidation capacity,...	Liver Fat	Mitochondria	Moderate
rs113994167	ACADVL p.Val283Ala (V283A)	Most common VLCAD deficiency variant in the US, causing mild late-onset disea...	Metabolic Enzymes & Rare Disorders	Mitochondria	Established
rs1064608	MTCH2 Pro290Ala	Missense variant in MTCH2 that reduces mitochondrial metabolic efficiency, in...	Hormones & Sleep	Mitochondria	Moderate
rs118204015	ACADVL	Likely-pathogenic VLCAD missense variant abolishing enzyme activity — carrier...	Liver Fat	Mitochondria	Strong
rs115532916	ACAD9 ACAD9 Ala326Pro	Pathogenic missense variant in acyl-CoA dehydrogenase family member 9, causin...	Metabolic Enzymes & Rare Disorders	Mitochondria	Strong
rs118204017	ACADVL	ACADVL missense variant (p.Phe458Leu) classified likely pathogenic for VLCAD ...	Liver Fat	Mitochondria	Strong
rs10838738	MTCH2	Intronic GWAS obesity variant in MTCH2 — affects mitochondrial energy balance...	Appetite & Obesity	Mitochondria	Moderate
rs11555236	SIRT3	Intronic regulatory variant near the SIRT3 VNTR enhancer — the A allele incre...	Longevity & Aging	Mitochondria	Moderate
rs121434281	ACADM S245L	Rare pathogenic missense variant in the ACADM gene (p.Ser245Leu) causing medi...	Metabolic Enzymes & Rare Disorders	Mitochondria	Established
rs121434282	ACADM Arg281Thr	Pathogenic missense variant in the MCAD enzyme causing medium-chain acyl-CoA ...	Metabolic Enzymes & Rare Disorders	Mitochondria	Established
rs2147349	XPO4	Intronic variant in XPO4 (chromosome 13q12.11) at a locus associated with age...	Gamete Quality & DNA Repair	Mitochondria	Moderate
rs12640088	PPARGC1A	Intronic variant in PPARGC1A that may modulate PGC-1alpha expression and mito...	Fitness & Body	Mitochondria	Emerging
rs12704795	PON2 PON2 intron 1 variant	Intronic PON2 haplotype tag; the A allele is associated with reduced intracel...	Vascular Inflammation & Remodeling	Mitochondria	Moderate
rs137852769	HADHA p.Glu510Gln	Most common LCHAD deficiency variant; homozygosity causes severe mitochondria...	Metabolic Enzymes & Rare Disorders	Mitochondria	Established
rs2307449	POLG	Intronic variant in POLG (mitochondrial DNA polymerase gamma) on chromosome 1...	Gamete Quality & DNA Repair	Mitochondria	Strong
rs515726176	CPT2	Rare CPT2 missense variant (p.Arg382Thr) that reduces carnitine palmitoyltran...	Liver Fat	Mitochondria	Moderate
rs1799958	ACADS G209S (c.625G>A)	Common missense variant in ACADS encoding short-chain acyl-CoA dehydrogenase;...	Metabolic Enzymes & Rare Disorders	Mitochondria	Established
rs613084	CPT1A CPT1A carnitine shuttle variant	Intronic variant that influences CPT1A expression and fatty acid oxidation ca...	Liver Fat	Mitochondria	Moderate
rs200788251	ACADVL ACADVL p.Gly289Arg	Pathogenic missense variant in ACADVL encoding VLCAD; heterozygous carriers a...	Metabolic Enzymes & Rare Disorders	Mitochondria	Established
rs1937	TFAM S12T	Missense variant in the TFAM mitochondrial targeting sequence — the C allele ...	Longevity & Aging	Mitochondria	Moderate
rs201065226	CPT2 p.Arg124Ter (R124X)	Rare stop-gain variant in CPT2 abolishing carnitine palmitoyltransferase II, ...	Metabolic Enzymes & Rare Disorders	Mitochondria	Strong
rs2034650	IVD	Intronic regulatory variant in IVD (isovaleryl-CoA dehydrogenase) associated ...	Metabolic Enzymes & Rare Disorders	Mitochondria	Emerging
rs267606898	MT-ND5	Heteroplasmic missense variant in the mitochondrially encoded ND5 subunit of ...	Metabolic Enzymes & Rare Disorders	Mitochondria	Strong
rs157582	TOMM40 TOMM40 memory variant	Intronic variant in TOMM40 (translocase of outer mitochondrial membrane 40) a...	Neurology & Cognition	Mitochondria	Strong
rs1800849	UCP3 -55C>T	Promoter variant in skeletal muscle uncoupling protein 3 that increases UCP3 ...	Fat Storage & Energy	Mitochondria	Moderate
rs2402970	NRF1	Intronic NRF1 variant associated with baseline differences in ventilatory thr...	Longevity & Aging	Mitochondria	Moderate
rs547025	SIRT3	Intronic variant in SIRT3 (the principal mitochondrial deacetylase) associate...	Endometriosis & Uterine Health	Mitochondria	Moderate
rs2267668	PPARD Intron variant (5' region)	Intronic PPARD variant that impairs aerobic fitness gains and body compositio...	Fitness & Body	Mitochondria	Moderate
rs377022708	ACAD9 Arg532Trp (R532W)	Pathogenic missense variant in the ACAD9 complex I assembly factor causing se...	Metabolic Enzymes & Rare Disorders	Mitochondria	Strong
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	Mitochondria	Emerging
rs387906249	ACADVL c.343del (p.Glu115Lysfs*2)	Pathogenic ACADVL frameshift deletion causing premature protein truncation; h...	Metabolic Enzymes & Rare Disorders	Mitochondria	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	Mitochondria	Moderate
rs74315294	CPT2 p.Ser113Leu (S113L)	Missense variant in CPT2 that destabilizes the carnitine palmitoyltransferase...	Metabolic Enzymes & Rare Disorders	Mitochondria	Established
rs4235308	PPARGC1A	Intronic variant in the PGC-1alpha gene linked to population-specific type 2 ...	Fitness & Body	Mitochondria	Emerging
rs587776949	NDUFS4	Frameshift deletion in NDUFS4 abolishing mitochondrial complex I function; ho...	Longevity & Aging	Mitochondria	Established
rs77931234	ACADM c.985A>G (p.Lys329Glu)	Pathogenic missense variant in ACADM reducing MCAD enzyme activity, predispos...	Cardiomyopathy & Structural Heart	Mitochondria	Established
rs7181866	GABPB1	Intronic variant in the mitochondrial biogenesis regulator NRF2, associated w...	Fitness & Body	Mitochondria	Moderate
rs8192678	PPARGC1A Gly482Ser	Master mitochondrial biogenesis regulator — Ser482 variant reduces PGC-1alpha...	Fitness & Body	Mitochondria	Strong
rs659366	UCP2	Promoter variant at position -866 of UCP2 that controls mitochondrial uncoupl...	Longevity & Aging	Mitochondria	Moderate
rs6949152	NRF1	Intronic variant in the master mitochondrial biogenesis transcription factor ...	Longevity & Aging	Mitochondria	Moderate
rs4880	SOD2 Val16Ala	Primary mitochondrial antioxidant enzyme - variant reduces superoxide detoxif...	Methylation & Detox	Mitochondria	Strong
rs56051278	GPD2	Intronic variant in GPD2 (mitochondrial glycerol-3-phosphate dehydrogenase), ...	Neurology & Cognition	Mitochondria	Strong
rs828903	MTHFD2	Intronic variant in the mitochondrial folate enzyme MTHFD2, influencing one-c...	Methylation & Detox	Mitochondria	Moderate
rs8111930	MRPL4 MRPL4 Atopy-Associated Intronic Variant	Intronic variant in MRPL4 on chromosome 19p13.2 that alters transcription fac...	Allergy & Atopic Disease	Mitochondria	Moderate