Variant: rs786205154 

    present in Gene: ETV6
    present in Chromosome: 12
    Position on Chromosome: 11885921
    Alleles of this Variant: GAACA/-

rs786205154 in ETV6 gene and Multiple congenital anomalies PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.