Variant: rs104893656 

    present in Gene: PAX8-AS1;PAX8
    present in Chromosome: 2
    Position on Chromosome: 113246826
    Alleles of this Variant: T/G

rs104893656 in PAX8-AS1;PAX8 gene and HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS PMID 9590296 1998 PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.

PMID 11232006 2001 Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.

PMID 11502839 2001 A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.