CNTN2, contactin 2, 6900

N. diseases: 99; N. variants: 14
Disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 ×
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: rs398122387
rs398122387 		1.000 1 205059099 frameshift variant G/- delins
CUI: C3809374
Disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 		0.700 0