Gene: AP4S1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754944359
rs754944359
AP4S1
T 0.700 CausalMutation CLINVAR Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families. 27444738

2016
dbSNP: rs200440467
rs200440467
AP4S1
T 0.700 CausalMutation CLINVAR