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: 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
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		Musculoskeletal Diseases 0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-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: rs796052686
rs796052686 		0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C0431447
Disease: Synophrys
Synophrys 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
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: rs774026720
rs774026720 		1.000 0.040 7 66638273 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		Nervous System Diseases 0.700 0
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: 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: 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