Variant: rs121909514 

    present in Gene: CHRNE;C17orf107
    present in Chromosome: 17
    Position on Chromosome: 4901932
    Alleles of this Variant: C/A

rs121909514 in CHRNE;C17orf107 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.