Tag

Mitochondria

22 genetic variants with this tag.

RSID	Gene	Description	Category
rs118204015	ACADVL	Likely-pathogenic VLCAD missense variant abolishing enzyme activity — carrier...	Liver Fat	Mitochondria	Strong
rs113994167	ACADVL p.Val283Ala (V283A)	Most common VLCAD deficiency variant in the US, causing mild late-onset disea...	Metabolic Enzymes & Rare Disorders	Mitochondria	Established
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
rs1799958	ACADS G209S (c.625G>A)	Common missense variant in ACADS encoding short-chain acyl-CoA dehydrogenase;...	Metabolic Enzymes & Rare Disorders	Mitochondria	Established
rs267606898	MT-ND5	Heteroplasmic missense variant in the mitochondrially encoded ND5 subunit of ...	Metabolic Enzymes & Rare Disorders	Mitochondria	Strong
rs377022708	ACAD9 Arg532Trp (R532W)	Pathogenic missense variant in the ACAD9 complex I assembly factor causing se...	Metabolic Enzymes & Rare Disorders	Mitochondria	Strong
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
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
rs77931234	ACADM c.985A>G (p.Lys329Glu)	Pathogenic missense variant in ACADM reducing MCAD enzyme activity, predispos...	Cardiomyopathy & Structural Heart	Mitochondria	Established
rs157582	TOMM40 TOMM40 memory variant	Intronic variant in TOMM40 (translocase of outer mitochondrial membrane 40) a...	Neurology & Cognition	Mitochondria	Strong
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
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
rs828903	MTHFD2	Intronic variant in the mitochondrial folate enzyme MTHFD2, influencing one-c...	Methylation & Detox	Mitochondria	Moderate
rs56051278	GPD2	Intronic variant in GPD2 (mitochondrial glycerol-3-phosphate dehydrogenase), ...	Neurology & Cognition	Mitochondria	Strong
rs8111930	MRPL4 MRPL4 Atopy-Associated Intronic Variant	Intronic variant in MRPL4 on chromosome 19p13.2 that alters transcription fac...	Allergy & Atopic Disease	Mitochondria	Moderate