Variant: rs387907185 

    present in Gene: SF3B4
    present in Chromosome: 1
    Position on Chromosome: 149927759
    Alleles of this Variant: T/C

rs387907185 in SF3B4 gene and Nager syndrome PMID 22541558 2012 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.