Talk:Rs121918355
From SNPedia
As per OMIM 602091.0001 the pathogenic allele is T for Primary Congenital Glaucoma 3 type D, but only homozygously. Of the Romani patients tested, this mutation was significantly present given the small sample sizes. Heterozygous parents of homozygous patients did not have Primary Congenital Claucoma 3 type D themselves.
