Variant: rs373730800 

    present in Gene: SBDS;TYW1
    present in Chromosome: 7
    Position on Chromosome: 66995320
    Alleles of this Variant: T/C;G

rs373730800 in SBDS;TYW1 gene and SHWACHMAN-DIAMOND SYNDROME 1 PMID 24898207 2014 Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.

PMID 12496757 2003 Mutations in SBDS are associated with Shwachman-Diamond syndrome.

PMID 22191555 2011 Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

PMID 21536732 2011 Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.