Variant: rs1555354198 

    present in Gene: SRP54
    present in Chromosome: 14
    Position on Chromosome: 35007369
    Alleles of this Variant: ACA/-

rs1555354198 in SRP54 gene and SHWACHMAN-DIAMOND SYNDROME 1 PMID 28972538 2017 Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.