rs1057519550, GABRB3

N. diseases: 2
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 0.925 0.040 15 26621403 missense variant T/G snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
8 0.925 0.040 15 26621403 missense variant T/G snv 0.700 0