MDH2, malate dehydrogenase 2, 4191

N. diseases: 111; N. variants: 5
Disease: Encephalopathy, CTCAE 3.0 ×
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: rs1057519566
rs1057519566 		0.851 0.160 7 76063579 missense variant C/T snv
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.700 1.000 1 2017 2017
dbSNP: rs375002796
rs375002796 		0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.700 1.000 1 2017 2017