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