Gene: BFSP2-AS1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893685
rs104893685
BFSP2 ; BFSP2-AS1
0.800 GeneticVariation UNIPROT Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. 15570218

2004
dbSNP: rs104893685
rs104893685
BFSP2 ; BFSP2-AS1
0.800 GeneticVariation UNIPROT Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. 10739768

2000
dbSNP: rs104893685
rs104893685
BFSP2 ; BFSP2-AS1
0.800 GeneticVariation UNIPROT A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. 10729115

2000
dbSNP: rs104893685
rs104893685
BFSP2 ; BFSP2-AS1
T 0.800 CausalMutation CLINVAR

dbSNP: rs121908938
rs121908938
BFSP2 ; BFSP2-AS1
A 0.700 CausalMutation CLINVAR