rs690016546, CSF1R

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hereditary Diffuse Leukoencephalopathy with Spheroids
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
44 1.000 0.040 5 150061777 frameshift variant T/- del 0.700 1.000 1 2013 2013