Source: BEFREE

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: rs281860281
rs281860281
CSF1R
1.000 0.040 5 150056316 missense variant C/A;T snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.730 1.000 3 2013 2015
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 1 2013 2013
dbSNP: rs281860274
rs281860274
CSF1R
1.000 0.040 5 150056280 missense variant A/G snv 4.0E-06
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.710 1.000 1 2012 2012
dbSNP: rs281860279
rs281860279
CSF1R
1.000 0.040 5 150055267 missense variant A/G snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.710 1.000 1 2013 2013
dbSNP: rs397515556
rs397515556
CSF1R
1.000 0.040 5 150056332 missense variant G/A snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.710 1.000 1 2012 2013
dbSNP: rs587777247
rs587777247
CSF1R
1.000 0.040 5 150056319 missense variant G/A;T snv
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.710 1.000 1 2013 2016