Variant: rs104893658 

    present in Gene: PAX8;PAX8-AS1
    present in Chromosome: 2
    Position on Chromosome: 113246760
    Alleles of this Variant: A/C

rs104893658 in PAX8;PAX8-AS1 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.