Variant: rs121909515 

    present in Gene: C17orf107;CHRNE
    present in Chromosome: 17
    Position on Chromosome: 4899509
    Alleles of this Variant: G/A;T

rs121909515 in C17orf107;CHRNE gene and MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY PMID 9158150 1997 Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.