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: rs74552543
rs74552543 		1.000 0.120 2 96761970 missense variant T/C snv
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.800 1.000 2 2009 2009
dbSNP: rs75267011
rs75267011 		1.000 0.120 2 96761706 missense variant G/A snv
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.800 1.000 2 2009 2009
dbSNP: rs79424354
rs79424354 		1.000 0.120 2 96761598 missense variant C/A snv 4.0E-06
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.800 0
dbSNP: rs1432600424
rs1432600424 		0.882 0.120 2 96799118 stop gained C/G;T snv 7.0E-06
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1432600424
rs1432600424 		0.882 0.120 2 96799118 stop gained C/G;T snv 7.0E-06
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.700 0
dbSNP: rs1432600424
rs1432600424 		0.882 0.120 2 96799118 stop gained C/G;T snv 7.0E-06
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1455470131
rs1455470131 		1.000 0.120 2 96797521 stop gained C/T snv
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs75559353
rs75559353 		1.000 0.120 2 96809338 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs80100937
rs80100937 		1.000 0.120 2 96799065 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs879255500
rs879255500 		1.000 0.120 2 96799056 splice acceptor variant G/C snv
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1021713187
rs1021713187 		1.000 0.120 2 96799188 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.010 1.000 1 2018 2018