GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8 ×
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: rs200024180
rs200024180 		1.000 19 18884128 missense variant G/A;C snv 4.9E-05
CUI: C4015619
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8
EPILEPSY, PROGRESSIVE MYOCLONIC, 8 		0.800 1.000 1 2014 2014
dbSNP: rs561672108
rs561672108 		1.000 19 18893551 stop gained G/A snv
CUI: C4015619
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 8
EPILEPSY, PROGRESSIVE MYOCLONIC, 8 		0.700 0