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: rs10263935
rs10263935 		1.000 0.040 7 66631041 intron variant G/A snv 0.51
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs10272546
rs10272546 		7 66646470 intron variant A/G snv 0.51
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
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: rs750033880
rs750033880 		0.925 0.120 7 66633302 missense variant G/A snv 1.4E-05
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs750033880
rs750033880 		0.925 0.120 7 66633302 missense variant G/A snv 1.4E-05
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs750033880
rs750033880 		0.925 0.120 7 66633302 missense variant G/A snv 1.4E-05
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2019 2019
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: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		Nervous System Diseases 0.800 1.000 5 2007 2012
dbSNP: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1857483
Disease: Decreased palmar creases
Decreased palmar creases 		0.700 0
dbSNP: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		0.700 0
dbSNP: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		0.700 0
dbSNP: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-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: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1854114
Disease: Short nose
Short nose 		0.700 0
dbSNP: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		Musculoskeletal Diseases 0.700 0
dbSNP: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C4024829
Disease: Nevus flammeus nuchae
Nevus flammeus nuchae 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0542223
Disease: Loss of speech
Loss of speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-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: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.700 0
dbSNP: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0