Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906893
rs387906893
DIABLO
0.800 GeneticVariation UNIPROT Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. 21722859

2011
dbSNP: rs387906893
rs387906893
DIABLO
A 0.800 CausalMutation CLINVAR