Disease: Joubert syndrome 1 ×
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: rs121918129
rs121918129 		1.000 0.160 9 136432562 missense variant C/T snv 3.2E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.800 1.000 6 2009 2017
dbSNP: rs121918128
rs121918128 		1.000 0.160 9 136430391 missense variant C/T snv 6.1E-06 7.0E-06
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.800 1.000 4 2009 2017
dbSNP: rs121918130
rs121918130 		0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.800 1.000 4 2009 2017
dbSNP: rs746212325
rs746212325 		1.000 0.160 9 136434769 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.800 1.000 2 2011 2015
dbSNP: rs757936530
rs757936530 		1.000 0.160 9 136434820 missense variant C/T snv 4.1E-06 1.4E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 4 2009 2017
dbSNP: rs763992407
rs763992407 		1.000 0.160 9 136430326 missense variant G/A snv 2.5E-05 2.1E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 4 2009 2017
dbSNP: rs746867724
rs746867724 		1.000 0.160 9 136431090 missense variant G/A snv 2.8E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs752300607
rs752300607 		1.000 0.160 9 136430325 missense variant C/T snv 5.7E-05 4.9E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs754637179
rs754637179 		1.000 0.160 9 136434127 missense variant G/A snv 3.4E-05 2.1E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs757222534
rs757222534 		1.000 0.160 9 136431905 missense variant C/A;T snv 4.1E-06
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs771866500
rs771866500 		0.925 0.160 9 136431102 missense variant C/G snv 4.0E-05 7.0E-06
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2011 2011
dbSNP: rs775518991
rs775518991 		1.000 0.160 9 136430319 frameshift variant A/- del 1.3E-05 2.1E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs780882740
rs780882740 		1.000 0.160 9 136434050 missense variant C/T snv 8.3E-06
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225197
rs863225197 		1.000 0.160 9 136430395 missense variant T/C snv
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225198
rs863225198 		1.000 0.160 9 136433250 missense variant G/A snv 2.8E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225199
rs863225199 		1.000 0.160 9 136429712 frameshift variant GT/- delins
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225200
rs863225200 		1.000 0.160 9 136433160 missense variant C/G;T snv 4.1E-06
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225201
rs863225201 		1.000 0.160 9 136433073 missense variant C/A snv 4.0E-06 1.4E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225202
rs863225202 		1.000 0.160 9 136432986 missense variant A/G snv
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs13297509
rs13297509 		1.000 0.160 9 136431830 missense variant G/A;T snv 3.8E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs374152018
rs374152018 		1.000 0.160 9 136431839 missense variant G/A;C snv 2.9E-05; 4.1E-06
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0