Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1561901881
rs1561901881
CSF1R
1.000 0.080 5 150054414 missense variant C/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs1561904557
rs1561904557
CSF1R
0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv
CUI: C0003635
Disease: Apraxias
Apraxias 		0.700 0
dbSNP: rs1561904557
rs1561904557
CSF1R
0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		0.700 0
dbSNP: rs1561904557
rs1561904557
CSF1R
0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		0.700 0
dbSNP: rs1561904557
rs1561904557
CSF1R
0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.700 0
dbSNP: rs1561904557
rs1561904557
CSF1R
0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv
CUI: C0085632
Disease: Apathy
Apathy 		0.700 0
dbSNP: rs1561904557
rs1561904557
CSF1R
0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.700 0
dbSNP: rs1561904557
rs1561904557
CSF1R
0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.700 0
dbSNP: rs1561904557
rs1561904557
CSF1R
0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs1561904557
rs1561904557
CSF1R
0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv
CUI: C0231687
Disease: Spastic gait
Spastic gait 		0.700 0
dbSNP: rs1561905293
rs1561905293
CSF1R
1.000 0.080 5 150056335 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs281860267
rs281860267
CSF1R
1.000 0.040 5 150061597 splice acceptor variant T/C snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.700 0
dbSNP: rs281860268
rs281860268
CSF1R
1.000 0.040 5 150061583 missense variant C/T snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.700 0
dbSNP: rs281860269
rs281860269
CSF1R
1.000 0.040 5 150060934 missense variant C/T snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.700 0
dbSNP: rs281860271
rs281860271
CSF1R
1.000 0.040 5 150057298 missense variant C/G;T snv 1.2E-05
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.700 0
dbSNP: rs281860272
rs281860272
CSF1R
1.000 0.040 5 150056343 splice acceptor variant T/C snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.700 0
dbSNP: rs281860273
rs281860273
CSF1R
1.000 0.040 5 150056337 missense variant A/T snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.700 0
dbSNP: rs281860275
rs281860275
CSF1R
1.000 0.040 5 150056214 splice region variant C/G snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.700 0
dbSNP: rs281860276
rs281860276
CSF1R
1.000 0.040 5 150056032 inframe deletion AGA/- delins
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.700 0
dbSNP: rs281860277
rs281860277
CSF1R
1.000 0.040 5 150056034 missense variant A/G snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.700 0
dbSNP: rs281860278
rs281860278
CSF1R
1.000 0.040 5 150055288 missense variant A/C;G snv 4.8E-05
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.700 0
dbSNP: rs281860280
rs281860280
CSF1R
1.000 0.040 5 150055259 missense variant G/T snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.700 0
dbSNP: rs397515555
rs397515555
CSF1R
1.000 0.040 5 150060873 missense variant C/T snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.700 0
dbSNP: rs397515557
rs397515557
CSF1R
1.000 0.040 5 150056097 missense variant A/G snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.700 0
dbSNP: rs690016563
rs690016563
CSF1R
1.000 0.040 5 150061731 missense variant A/G snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.700 1.000 1 1989 1989