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: rs6600164
rs6600164 		16 1706177 upstream gene variant T/C;G snv
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs770703007
rs770703007 		0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs770703007
rs770703007 		0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs770703007
rs770703007 		0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06
CUI: C0423082
Disease: Hypometric saccades
Hypometric saccades 		0.700 0
dbSNP: rs770703007
rs770703007 		0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs770703007
rs770703007 		0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs770703007
rs770703007 		0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs770703007
rs770703007 		0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06
CUI: C4023073
Disease: EEG with temporal focal spikes
EEG with temporal focal spikes 		0.700 0
dbSNP: rs770703007
rs770703007 		0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06
CUI: C4023074
Disease: EEG with parietal focal spikes
EEG with parietal focal spikes 		0.700 0