Variant: rs137853298 

    present in Gene: SYN3;TIMP3
    present in Chromosome: 22
    Position on Chromosome: 32859351
    Alleles of this Variant: A/T

rs137853298 in SYN3;TIMP3 gene and FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY PMID 8981947 1997 Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.

PMID 8634721 1995 A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.

PMID 8728699 1996 Subsequently, two separate mutations in TIMP3 were found in affected members of two unrelated SFD pedigrees (Tyr168Cys and Ser181Cys).

PMID 7894485 1994 Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy.

PMID 7550309 1995 Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.