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: rs1554397774
rs1554397774 		7 66633273 splice acceptor variant A/G snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 10 2005 2016
dbSNP: rs387907261
rs387907261 		0.925 0.040 7 66639180 missense variant A/G;T snv
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		Nervous System Diseases 0.800 1.000 5 2007 2012
dbSNP: rs387907262
rs387907262 		1.000 0.040 7 66638281 missense variant G/T snv
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		Nervous System Diseases 0.800 1.000 5 2007 2012
dbSNP: rs387907263
rs387907263 		1.000 0.040 7 66638260 missense variant C/A snv
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		Nervous System Diseases 0.800 1.000 5 2007 2012
dbSNP: rs1554397834
rs1554397834 		1.000 0.040 7 66633445 splice donor variant G/A snv
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs387907261
rs387907261 		0.925 0.040 7 66639180 missense variant A/G;T snv
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs267607199
rs267607199 		1.000 0.040 7 66633425 stop gained C/A;T snv 8.0E-06; 4.0E-06
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		Nervous System Diseases 0.700 0
dbSNP: rs727502785
rs727502785 		1.000 0.040 7 66638954 frameshift variant C/- delins
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		Nervous System Diseases 0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		Nervous System Diseases 0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		Musculoskeletal Diseases 0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1854114
Disease: Short nose
Short nose 		0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1857483
Disease: Decreased palmar creases
Decreased palmar creases 		0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1848850
Disease: Nevus flammeus of the forehead
Nevus flammeus of the forehead 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0542223
Disease: Loss of speech
Loss of speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0