GJD2, gap junction protein delta 2, 57369

N. diseases: 29; N. variants: 1
Disease: Juvenile Myoclonic Epilepsy ×
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: rs3743123
rs3743123 		1.000 0.040 15 34752856 synonymous variant G/A snv 0.32 0.31
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		Nervous System Diseases 0.020 1.000 2 2006 2017