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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs368001837
rs368001837 		0.851 0.080 7 66638895 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs368001837
rs368001837 		0.851 0.080 7 66638895 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2019 2019
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: 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