Disease: Primary lateral sclerosis juvenile ×
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: rs369577952
rs369577952 		0.882 0.120 2 201757640 stop gained A/C;G snv 8.0E-06 7.0E-06
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		Nervous System Diseases 0.700 0
dbSNP: rs386134174
rs386134174 		0.925 0.080 2 201761441 frameshift variant T/- del
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		Nervous System Diseases 0.700 0
dbSNP: rs386134176
rs386134176 		1.000 0.040 2 201757445 frameshift variant CT/- delins
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		Nervous System Diseases 0.700 0
dbSNP: rs386134181
rs386134181 		0.925 0.080 2 201746696 frameshift variant AG/- del 1.4E-05
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		Nervous System Diseases 0.700 0
dbSNP: rs386134184
rs386134184 		1.000 0.040 2 201726868 splice acceptor variant T/C snv
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		Nervous System Diseases 0.700 0