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: rs387907246
rs387907246
0.925 0.040 7 66638912 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3
Nervous System Diseases 0.800 1.000 7 1990 2016
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: 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: 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: rs201296399
rs201296399
7 66633320 missense variant A/G snv 5.6E-05 4.9E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 10 2005 2016
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: 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
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