Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs690016546
rs690016546
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		G 0.700 CausalMutation CLINVAR Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. 23649896

2013