Variant: rs1555742780

present in Gene: PNPLA6;MCOLN1 present in Chromosome: 19 Position on Chromosome: 7533561 Alleles of this Variant: G/-

rs1555742780 in PNPLA6;MCOLN1 gene and Mucolipidosis Type IV PMID 18326692 2008 Isolated ocular disease is associated with decreased mucolipin-1 channel conductance.