GPT2, glutamic--pyruvic transaminase 2, 84706

N. diseases: 63; N. variants: 4
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786203999
rs786203999
1.000 16 46906858 missense variant C/G snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
Nervous System Diseases 0.010 1.000 1 2015 2015