Variant: rs552057730 

    present in Gene: RET
    present in Chromosome: 10
    Position on Chromosome: 43111238
    Alleles of this Variant: C/A;T

rs552057730 in RET gene and Congenital central hypoventilation PMID 14566559 2003 Molecular analysis of congenital central hypoventilation syndrome.

PMID 9497256 1998 Mutations of the RET-GDNF signaling pathway in Ondine's curse.

PMID 12086152 2002 Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case.