Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.010 GeneticVariation BEFREE With regards to p.(Met390Arg) cases, homozygotes showed a relatively more severe ocular phenotype than compound heterozygotes, since more severe fundus alterations and higher frequency of cataracts and dyschromatopsia (not previously described) were documented in the first group. 26082521

2015