Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159971
rs724159971
MFSD8
A 0.700 CausalMutation CLINVAR Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. 28708303

2018
dbSNP: rs724159971
rs724159971
MFSD8
A 0.700 CausalMutation CLINVAR The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. 25976102

2015
dbSNP: rs724159971
rs724159971
MFSD8
A 0.700 CausalMutation CLINVAR Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532

2009
dbSNP: rs724159971
rs724159971
MFSD8
A 0.700 GeneticVariation CLINVAR