Variant: rs757188030 

    present in Gene: SLFN14
    present in Chromosome: 17
    Position on Chromosome: 35557396
    Alleles of this Variant: G/A;C

rs757188030 in SLFN14 gene and BLEEDING DISORDER, PLATELET-TYPE, 20 PMID 26280575 2015 SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.

PMID 26769223 2016 SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia.