Variant: rs150418024

present in Gene: MFSD8 present in Chromosome: 4 Position on Chromosome: 127921956 Alleles of this Variant: C/G;T

rs150418024 in MFSD8 gene and MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT PMID 25227500 2015 Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.