MDH2, malate dehydrogenase 2, 4191

N. diseases: 111; N. variants: 5
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 ×
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: rs375002796
rs375002796 		0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.800 1.000 1 2017 2017
dbSNP: rs782308462
rs782308462 		1.000 7 76054872 missense variant G/A snv 8.0E-06
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.800 1.000 1 2017 2017
dbSNP: rs1057519566
rs1057519566 		0.851 0.160 7 76063579 missense variant C/T snv
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.800 0
dbSNP: rs1057519567
rs1057519567 		0.882 0.040 7 76063554 frameshift variant G/- delins
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.700 0