Tag

Muscle

34 genetic variants with this tag.

RSID	Gene	Description	Category
rs104894369	MYL2 Arg58Gln	Pathogenic missense variant in the cardiac regulatory myosin light chain caus...	Cardiomyopathy & Structural Heart	Muscle	Established
rs11235972	UCP3	Intronic UCP3 variant associated with skeletal muscle fat oxidation capacity,...	Liver Fat	Muscle	Moderate
rs113994167	ACADVL p.Val283Ala (V283A)	Most common VLCAD deficiency variant in the US, causing mild late-onset disea...	Metabolic Enzymes & Rare Disorders	Muscle	Established
rs1053049	PPARD 3'UTR variant	3'UTR variant in PPARD that acts as the third tag in the elite athlete haplot...	Fitness & Body	Muscle	Moderate
rs119103258	PYGM	Pathogenic missense variant in muscle glycogen phosphorylase causing post-tra...	Metabolic Enzymes & Rare Disorders	Muscle	Established
rs104894797	DMD Arg3182Ter (R3182*)	Pathogenic nonsense variant in dystrophin creating a premature stop codon at ...	Cardiomyopathy & Structural Heart	Muscle	Established
rs104894805	EMD Pro183His (P183H)	Pathogenic missense variant in emerin that weakens nuclear lamina interaction...	Cardiomyopathy & Structural Heart	Muscle	Established
rs2303729	LTBP4	Missense variant in LTBP4 encoding Val194Ile; the A allele (Ile) forms the IA...	Gamete Quality & DNA Repair	Muscle	Strong
rs128627256	DMD Arg2905Ter (R2905X)	Nonsense variant in dystrophin that eliminates full-length protein, causing X...	Cardiomyopathy & Structural Heart	Muscle	Established
rs1421405659	MYBPC1 Leu259Pro	Ultra-rare dominant missense variant in slow skeletal myosin-binding protein ...	Fitness & Body	Muscle	Strong
rs515726176	CPT2	Rare CPT2 missense variant (p.Arg382Thr) that reduces carnitine palmitoyltran...	Liver Fat	Muscle	Moderate
rs17602729	AMPD1 C34T (Q12X)	Enzyme critical for energy production during high-intensity exercise; deficie...	Fitness & Body	Muscle	Strong
rs1799752	ACE I/D (Alu insertion/deletion)	The causal ACE insertion/deletion structural variant — presence or absence of...	Fitness & Body	Muscle	Strong
rs193922680	ACTC1 ACTC1 p.Glu101Lys	Pathogenic missense variant in cardiac alpha-actin that causes hypertrophic c...	Cardiomyopathy & Structural Heart	Muscle	Established
rs199474703	MYL3 Arg94His (R94H)	Rare pathogenic missense variant in the myosin essential light chain causing ...	Cardiomyopathy & Structural Heart	Muscle	Strong
rs201065226	CPT2 p.Arg124Ter (R124X)	Rare stop-gain variant in CPT2 abolishing carnitine palmitoyltransferase II, ...	Metabolic Enzymes & Rare Disorders	Muscle	Strong
rs267606908	MYH7 D906G	Pathogenic beta-myosin heavy chain missense variant causing a hypercontractil...	Cardiomyopathy & Structural Heart	Muscle	Established
rs1805086	MSTN K153R	Affects myostatin's ability to limit muscle growth, influencing muscle mass a...	Fitness & Body	Muscle	Moderate
rs267606993	PYGM PYGM Met1Val (start-loss)	Pathogenic start-codon variant in muscle glycogen phosphorylase; homozygous o...	Metabolic Enzymes & Rare Disorders	Muscle	Established
rs375882485	MYBPC3 Arg502Trp	Pathogenic missense variant in the C3 domain of cardiac myosin-binding protei...	Cardiomyopathy & Structural Heart	Muscle	Established
rs1815739	ACTN3 R577X	Determines presence of alpha-actinin-3 protein in fast-twitch muscle fibers, ...	Fitness & Body	Muscle	Strong
rs3900940	MYH15 T1105A	Missense variant in MYH15 encoding a Thr1105Ala substitution in myosin heavy ...	Cardiomyopathy & Structural Heart	Muscle	Emerging
rs2010963	VEGFA G-634C (+405G>C)	Promoter variant affecting VEGF-A expression and angiogenesis, influencing mu...	Fitness & Body	Muscle	Strong
rs396514912	OBSCN Protein-truncating variant	Protein-truncating frameshift deletion in obscurin; homozygous or compound he...	Cardiomyopathy & Structural Heart	Muscle	Moderate
rs2016520	PPARD +294T>C	Regulatory variant that increases PPARD transcription, enhancing fat oxidatio...	Fitness & Body	Muscle	Moderate
rs2267668	PPARD Intron variant (5' region)	Intronic PPARD variant that impairs aerobic fitness gains and body compositio...	Fitness & Body	Muscle	Moderate
rs397516406	MYL2 G162E (Gly162Glu)	Pathogenic missense variant in the ventricular regulatory myosin light chain ...	Cardiomyopathy & Structural Heart	Muscle	Strong
rs1799999	PPP1R3A Asp905Tyr	Missense variant in the skeletal muscle glycogen-targeting subunit of protein...	Blood Sugar & Diabetes	Muscle	Moderate
rs28937900	FKRP L276I	The most common pathogenic mutation in FKRP causing limb-girdle muscular dyst...	Fitness & Body	Muscle	Established
rs4253778	PPARA intron 7 G/C	Regulates fatty acid oxidation and muscle fiber composition, influencing endu...	Fitness & Body	Muscle	Moderate
rs4341	ACE I/D tag SNP	Tag SNP for the ACE insertion/deletion polymorphism — the C allele tracks the...	Fitness & Body	Muscle	Strong
rs587782951	JPH2 Thr161Lys	Pathogenic missense variant in junctophilin-2 that disrupts sarcoplasmic reti...	Cardiomyopathy & Structural Heart	Muscle	Strong
rs71180793	OBSCN OBSCN c.23838del	Frameshift deletion in obscurin, a giant sarcomeric scaffold protein; heteroz...	Cardiomyopathy & Structural Heart	Muscle	Emerging
rs63749869	RYR1 R4861H (Arg4861His)	RYR1 missense variant causing malignant hyperthermia susceptibility and centr...	Fitness & Body	Muscle	Established