Variant: rs121434491 

    present in Gene: EFEMP1;LOC112268416
    present in Chromosome: 2
    Position on Chromosome: 55871091
    Alleles of this Variant: G/A

rs121434491 in EFEMP1;LOC112268416 gene and DOYNE HONEYCOMB RETINAL DYSTROPHY PMID 17666404 2007 The inherited macular degeneration Doyne honeycomb retinal dystrophy/Malattia Leventinese is thought to be caused by an R345W mutation in the EFEMP1 gene (also called fibulin-3).

PMID 11384588 2001 Dominant radial drusen and Arg345Trp EFEMP1 mutation.

PMID 12242346 2002 Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.

PMID 10369267 1999 A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.