Variant: rs1554341158 

    present in Gene: SAMD9L
    present in Chromosome: 7
    Position on Chromosome: 93133016
    Alleles of this Variant: G/A

rs1554341158 in SAMD9L gene and Myelocerebellar Disorder PMID 28202457 2017 Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.