Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906662
rs387906662
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		A 0.800 CausalMutation CLINVAR

dbSNP: rs281860281
rs281860281
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		T 0.730 CausalMutation CLINVAR

dbSNP: rs281860270
rs281860270
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		G 0.710 CausalMutation CLINVAR

dbSNP: rs281860274
rs281860274
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		G 0.710 CausalMutation CLINVAR

dbSNP: rs281860279
rs281860279
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		G 0.710 CausalMutation CLINVAR

dbSNP: rs397515556
rs397515556
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		A 0.710 CausalMutation CLINVAR Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. 23649896

2013
dbSNP: rs587777247
rs587777247
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		A 0.710 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs587777247
rs587777247
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		T 0.710 CausalMutation CLINVAR Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. 24336230

2014
dbSNP: rs587777247
rs587777247
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		A 0.710 CausalMutation CLINVAR A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. 23816250

2013
dbSNP: rs587777247
rs587777247
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		A 0.710 CausalMutation CLINVAR De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). 24198292

2013
dbSNP: rs1057519802
rs1057519802
CSF1R
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		C 0.700 GeneticVariation CLINVAR Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1. 18971950

2009
dbSNP: rs1057519802
rs1057519802
CSF1R
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		C 0.700 GeneticVariation CLINVAR Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1. 18971950

2009
dbSNP: rs1057520014
rs1057520014
CSF1R
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		A 0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990
dbSNP: rs121913390
rs121913390
CSF1R
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913390
rs121913390
CSF1R
CUI: C0027651
Disease: Neoplasms
Neoplasms 		G 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913390
rs121913390
CSF1R
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		G 0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990
dbSNP: rs121913392
rs121913392
CSF1R
CUI: C0027651
Disease: Neoplasms
Neoplasms 		C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913392
rs121913392
CSF1R
CUI: C0027651
Disease: Neoplasms
Neoplasms 		T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913393
rs121913393
CSF1R
CUI: C0027651
Disease: Neoplasms
Neoplasms 		G 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913393
rs121913393
CSF1R
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		G 0.700 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990
dbSNP: rs1561901881
rs1561901881
CSF1R
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1561904557
rs1561904557
CSF1R
CUI: C0003635
Disease: Apraxias
Apraxias 		TGCC 0.700 CausalMutation CLINVAR

dbSNP: rs1561904557
rs1561904557
CSF1R
CUI: C0085632
Disease: Apathy
Apathy 		TGCC 0.700 CausalMutation CLINVAR

dbSNP: rs1561904557
rs1561904557
CSF1R
CUI: C0231687
Disease: Spastic gait
Spastic gait 		TGCC 0.700 CausalMutation CLINVAR

dbSNP: rs1561904557
rs1561904557
CSF1R
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		TGCC 0.700 CausalMutation CLINVAR