rs869025319, UNC80

N. diseases: 4
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 0.925 0.160 2 209967586 stop gained T/A snv 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.925 0.160 2 209967586 stop gained T/A snv 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 0.925 0.160 2 209967586 stop gained T/A snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.925 0.160 2 209967586 stop gained T/A snv 0.700 0