Variant: rs80338910 

    present in Gene: TFAP2B
    present in Chromosome: 6
    Position on Chromosome: 50823543
    Alleles of this Variant: C/G

rs80338910 in TFAP2B gene and CHAR SYNDROME PMID 10802654 2000 Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.

PMID 15684060 2005 Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.

PMID 11505339 2001 Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.