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: rs1057519802
rs1057519802
CSF1R
5 150061765 missense variant A/C snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.700 1.000 1 2009 2009
dbSNP: rs1057519802
rs1057519802
CSF1R
5 150061765 missense variant A/C snv
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.700 1.000 1 2009 2009
dbSNP: rs1057520014
rs1057520014
CSF1R
5 150073480 missense variant C/A snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.700 1.000 1 1990 1990
dbSNP: rs121913390
rs121913390
CSF1R
5 150073481 stop gained A/G;T snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.700 1.000 1 1990 1990
dbSNP: rs121913390
rs121913390
CSF1R
5 150073481 stop gained A/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913392
rs121913392
CSF1R
5 150054081 stop gained A/C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913393
rs121913393
CSF1R
5 150054083 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913393
rs121913393
CSF1R
5 150054083 missense variant A/G snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.700 1.000 1 1990 1990
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: rs1801271
rs1801271
CSF1R
5 150054082 missense variant T/A;C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs1801271
rs1801271
CSF1R
5 150054082 missense variant T/A;C snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.700 1.000 1 1990 1990
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: rs281860270
rs281860270
CSF1R
1.000 0.040 5 150057309 missense variant A/G snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.710 1.000 0 2013 2013