Variant: rs121434299 

    present in Gene: FBLN5
    present in Chromosome: 14
    Position on Chromosome: 91937148
    Alleles of this Variant: C/G

rs121434299 in FBLN5 gene and NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION PMID 15269314 2004 Missense variations in the fibulin 5 gene and age-related macular degeneration.

PMID 16652333 2006 Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

PMID 20599547 2010 Biophysical characterisation of fibulin-5 proteins associated with disease.

PMID 20007835 2010 Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.