Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942077
rs28942077
LYST
0.800 GeneticVariation UNIPROT Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation. 24521565

2014
dbSNP: rs28942077
rs28942077
LYST
0.800 GeneticVariation UNIPROT Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. 11857544

2002
dbSNP: rs28942077
rs28942077
LYST
T 0.800 CausalMutation CLINVAR