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: 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: rs368001837
rs368001837 		0.851 0.080 7 66638895 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		Nervous System Diseases 0.700 0
dbSNP: rs387907246
rs387907246 		0.925 0.040 7 66638912 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C4017260
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS 		0.700 0
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
dbSNP: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		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: C0333068
Disease: Flexion contracture
Flexion contracture 		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: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0
dbSNP: rs387907260
rs387907260 		0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0036572
Disease: Seizures
Seizures 		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: C0431447
Disease: Synophrys
Synophrys 		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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic 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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		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