GPT2, glutamic--pyruvic transaminase 2, 84706

N. diseases: 63; N. variants: 4
Disease: Dysmorphic features ×
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: rs1437184398
rs1437184398 		0.925 0.120 16 46884785 stop gained C/T snv 7.2E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2014 2018