Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200201691
rs200201691
TGFBI
0.020 GeneticVariation BEFREE Typical corneal non-amyloid deposits from GCD type 2 (R124H), amyloid from a variant of LCD type 1 (V624M) and disease-free tissue controls were procured by laser capture microdissection and analyzed by tandem mass spectrometry. 22155582

2012
dbSNP: rs200201691
rs200201691
TGFBI
0.020 GeneticVariation BEFREE A novel Val624Met homozygous mutation in TGFBI was associated with atypical LCD in two family members. 18385782

2008