Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74552543
rs74552543
CNNM4
0.800 GeneticVariation UNIPROT Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. 19200527

2009
dbSNP: rs74552543
rs74552543
CNNM4
0.800 GeneticVariation UNIPROT Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. 19200525

2009
dbSNP: rs74552543
rs74552543
CNNM4
C 0.800 CausalMutation CLINVAR