Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906662
rs387906662
0.800 GeneticVariation UNIPROT Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene. 24532199

2014

dbSNP: rs387906662
rs387906662
0.800 GeneticVariation UNIPROT Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. 22197934

2011

dbSNP: rs387906662
rs387906662
A 0.800 CausalMutation CLINVAR