SYT2, synaptotagmin 2, 127833

N. diseases: 94; N. variants: 18
Disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC ×
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: rs587777781
rs587777781 		0.925 0.120 1 202599351 missense variant T/G snv
CUI: C4015038
Disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC 		0.800 1.000 1 2014 2014
dbSNP: rs587777782
rs587777782 		0.925 0.040 1 202599348 missense variant G/A snv
CUI: C4015038
Disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC 		0.800 1.000 1 2014 2014