rs200659479, UNC80

N. diseases: 2
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.
Encephalopathy, CTCAE 3.0
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
24 1.000 2 209813719 stop gained C/T snv 7.0E-06 0.700 0
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
CUI: C4225203
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
14 1.000 2 209813719 stop gained C/T snv 7.0E-06 0.700 0