Variant: rs1554985722 

    present in Gene: PAX6
    present in Chromosome: 11
    Position on Chromosome: 31802714
    Alleles of this Variant: C/G

rs1554985722 in PAX6 gene and Congenital cataract PMID 29178648 2017 Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.

rs1554985722 in PAX6 gene and Microphthalmos PMID 29178648 2017 Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.