Variant: rs121912815 

    present in Gene: CHAT
    present in Chromosome: 10
    Position on Chromosome: 49620546
    Alleles of this Variant: C/G

rs121912815 in CHAT gene and Familial infantile myasthenia PMID 12756141 2003 Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.

PMID 11172068 2001 Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.