Disease: Myasthenic Syndromes, Congenital ×
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: rs104894299
rs104894299 		0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.750 1.000 9 2003 2017
dbSNP: rs786200905
rs786200905 		0.882 0.120 11 47449174 upstream gene variant T/C snv 2.1E-05
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2003 2003
dbSNP: rs886037842
rs886037842 		1.000 0.080 11 47449163 upstream gene variant G/C snv
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2003 2003