Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894064
rs104894064
0.800 GeneticVariation UNIPROT EPMR patients were homozygous for a missense mutation (70C-->G, R24G) that was not found in homozygosity in 433 controls.We also cloned the mouse Cln8 sequence. 10508524

1999

dbSNP: rs104894064
rs104894064
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012

dbSNP: rs104894064
rs104894064
G 0.800 CausalMutation CLINVAR