rs1057519567, MDH2

N. diseases: 5
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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
4 0.882 0.040 7 76063554 frameshift variant G/- delins 0.700 0
Drug Resistant Epilepsy
CUI: C1096063
Disease: Drug Resistant Epilepsy
35 0.882 0.040 7 76063554 frameshift variant G/- delins 0.700 1.000 1 2017 2017
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.882 0.040 7 76063554 frameshift variant G/- delins 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.040 7 76063554 frameshift variant G/- delins 0.700 1.000 1 2017 2017
Infantile encephalopathy
CUI: C1856408
Disease: Infantile encephalopathy
9 0.882 0.040 7 76063554 frameshift variant G/- delins 0.700 1.000 1 2017 2017