Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312751
rs869312751
T 0.700 CausalMutation CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652

2015

dbSNP: rs869312751
rs869312751
T 0.700 CausalMutation CLINVAR CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. 23160995

2012