Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281874657
rs281874657
COL4A5
0.010 GeneticVariation BEFREE The index case had the p.Q379X variant in COL4A5 and currently had renal impairment, (eGFR = 45 ml/min/1.73 m<sup>2</sup>), bilateral hearing loss, and central and peripheral retinopathies. 27485810

2017