Variant: rs1554669525 

    present in Gene: TJP2
    present in Chromosome: 9
    Position on Chromosome: 69254206
    Alleles of this Variant: TTCCAGACCCCCTGAGCCACAGAAAGCTCCTTCCAGACCTTATCAGGATACCAGAGGAAGTTATGGCAGTGATGCCGAGGAGGAGGAGTACCGCCAGCAGCTGTCAGAACACTCCAAGCGCGGTTACTATGGCCAGTCTGCCCGATACCGGGACACAGAATTATAG/-

rs1554669525 in TJP2 gene and Cholestasis, progressive familial intrahepatic 4 PMID 24614073 2014 Mutations in TJP2 cause progressive cholestatic liver disease.