Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060501889
rs1060501889
GABRG2
0.925 0.080 5 162149210 frameshift variant G/- del
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0.700 1.000 3 2008 2015
dbSNP: rs1060501889
rs1060501889
GABRG2
0.925 0.080 5 162149210 frameshift variant G/- del
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		0.700 1.000 3 2008 2015