Variant: rs540296842 

    present in Gene: PAX1
    present in Chromosome: 20
    Position on Chromosome: 21706648
    Alleles of this Variant: G/C;T

rs540296842 in PAX1 gene and OTOFACIOCERVICAL SYNDROME 2 PMID 23851939 2013 A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.