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: rs62635288
rs62635288 		0.882 0.240 12 88141287 missense variant C/A snv
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.800 1.000 6 2006 2015
dbSNP: rs62635288
rs62635288 		0.882 0.240 12 88141287 missense variant C/A snv
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs62635288
rs62635288 		0.882 0.240 12 88141287 missense variant C/A snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 1.000 1 2006 2006
dbSNP: rs758550675
rs758550675 		1.000 0.200 12 88140969 frameshift variant GAGT/- delins 7.0E-06
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs758593134
rs758593134 		0.851 0.200 12 88140955 splice donor variant C/T snv 4.6E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2010 2010
dbSNP: rs758593134
rs758593134 		0.851 0.200 12 88140955 splice donor variant C/T snv 4.6E-06
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2010 2010
dbSNP: rs758593134
rs758593134 		0.851 0.200 12 88140955 splice donor variant C/T snv 4.6E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs758593134
rs758593134 		0.851 0.200 12 88140955 splice donor variant C/T snv 4.6E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2010 2010
dbSNP: rs863225188
rs863225188 		1.000 0.200 12 88141034 splice acceptor variant C/A snv
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1057517696
rs1057517696 		1.000 12 88188871 frameshift variant A/- delins
CUI: C4310646
Disease: LISSENCEPHALY 8
LISSENCEPHALY 8 		0.700 0
dbSNP: rs1057517697
rs1057517697 		1.000 12 88195521 stop gained C/T snv
CUI: C4310646
Disease: LISSENCEPHALY 8
LISSENCEPHALY 8 		0.700 0
dbSNP: rs1057517698
rs1057517698 		1.000 12 88148318 start lost G/A snv
CUI: C4310646
Disease: LISSENCEPHALY 8
LISSENCEPHALY 8 		0.700 0
dbSNP: rs1057519417
rs1057519417 		1.000 12 88194862 frameshift variant -/TT delins
CUI: C4310646
Disease: LISSENCEPHALY 8
LISSENCEPHALY 8 		0.700 0
dbSNP: rs386834150
rs386834150 		1.000 0.240 12 88140954 splice donor variant A/T snv
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs754200057
rs754200057 		1.000 12 88153300 missense variant C/G;T snv 4.0E-06
CUI: C4310646
Disease: LISSENCEPHALY 8
LISSENCEPHALY 8 		0.700 0
dbSNP: rs770896677
rs770896677 		1.000 0.080 12 88153313 missense variant G/A;C snv 1.2E-05; 4.0E-06
CUI: C0393719
Disease: Nocturnal epilepsy
Nocturnal epilepsy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs770896677
rs770896677 		1.000 0.080 12 88153313 missense variant G/A;C snv 1.2E-05; 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017