rs879253748, GABRA1

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
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.882 0.040 5 161897251 frameshift variant C/- del 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
CUI: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
9 0.882 0.040 5 161897251 frameshift variant C/- del 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.040 5 161897251 frameshift variant C/- del 0.700 0
Infantile encephalopathy
CUI: C1856408
Disease: Infantile encephalopathy
9 0.882 0.040 5 161897251 frameshift variant C/- del 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.040 5 161897251 frameshift variant C/- del 0.700 0