Tag

Muscle

16 genetic variants with this tag.

RSID	Gene	Description	Category
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
rs113994167	ACADVL p.Val283Ala (V283A)	Most common VLCAD deficiency variant in the US, causing mild late-onset disea...	Metabolic Enzymes & Rare Disorders	Muscle	Established
rs119103258	PYGM	Pathogenic missense variant in muscle glycogen phosphorylase causing post-tra...	Metabolic Enzymes & Rare Disorders	Muscle	Established
rs2303729	LTBP4	Missense variant in LTBP4 encoding Val194Ile; the A allele (Ile) forms the IA...	Gamete Quality & DNA Repair	Muscle	Strong
rs17602729	AMPD1 C34T (Q12X)	Enzyme critical for energy production during high-intensity exercise; deficie...	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
rs1805086	MSTN K153R	Affects myostatin's ability to limit muscle growth, influencing muscle mass a...	Fitness & Body	Muscle	Moderate
rs267606908	MYH7 D906G	Pathogenic beta-myosin heavy chain missense variant causing a hypercontractil...	Cardiomyopathy & Structural Heart	Muscle	Established
rs1815739	ACTN3 R577X	Determines presence of alpha-actinin-3 protein in fast-twitch muscle fibers, ...	Fitness & Body	Muscle	Strong
rs375882485	MYBPC3 Arg502Trp	Pathogenic missense variant in the C3 domain of cardiac myosin-binding protei...	Cardiomyopathy & Structural Heart	Muscle	Established
rs28937900	FKRP L276I	The most common pathogenic mutation in FKRP causing limb-girdle muscular dyst...	Fitness & Body	Muscle	Established
rs3900940	MYH15 T1105A	Missense variant in MYH15 encoding a Thr1105Ala substitution in myosin heavy ...	Cardiomyopathy & Structural Heart	Muscle	Emerging
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
rs587782951	JPH2 Thr161Lys	Pathogenic missense variant in junctophilin-2 that disrupts sarcoplasmic reti...	Cardiomyopathy & Structural Heart	Muscle	Strong