rs201108965
|
0.851 |
0.320 |
11 |
61393965 |
missense variant |
G/A;T
|
snv
|
8.0E-06;
1.7E-04
|
|
JOUBERT SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2010 |
2015 |
rs779526456
|
1.000 |
0.200 |
11 |
61393964 |
missense variant |
C/T
|
snv
|
1.2E-05
|
|
JOUBERT SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2010 |
2015 |
rs11230683
|
0.882 |
0.320 |
11 |
61397797 |
stop gained |
C/A;G;T
|
snv
|
2.8E-03;
4.0E-06;
8.0E-05
|
|
JOUBERT SYNDROME 2
|
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 |
4 |
2010 |
2017 |
rs541666319
|
1.000 |
0.200 |
11 |
61393963 |
synonymous variant |
T/C
|
snv
|
6.2E-04
|
7.0E-05
|
JOUBERT SYNDROME 2
|
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 |
2015 |
2015 |
rs755459875
|
1.000 |
0.200 |
11 |
61397942 |
stop gained |
T/G
|
snv
|
8.0E-06
|
2.8E-05
|
JOUBERT SYNDROME 2
|
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 |
2015 |
2015 |
rs1057517498
|
0.925 |
0.320 |
11 |
61392667 |
splice donor variant |
T/C
|
snv
|
7.4E-06
|
|
JOUBERT SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517512
|
0.925 |
0.320 |
11 |
61393969 |
frameshift variant |
G/-
|
del
|
1.2E-05
|
|
JOUBERT SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517528
|
0.925 |
0.320 |
11 |
61393229 |
splice acceptor variant |
A/G
|
snv
|
7.3E-06
|
2.1E-05
|
JOUBERT SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs147267631
|
0.925 |
0.320 |
11 |
61397880 |
stop gained |
C/A;T
|
snv
|
1.6E-05
|
2.1E-05
|
JOUBERT SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554972547
|
0.882 |
0.320 |
11 |
61393883 |
splice acceptor variant |
G/A
|
snv
|
|
|
JOUBERT SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554972556
|
0.925 |
0.320 |
11 |
61393908 |
frameshift variant |
ACCTA/-
|
delins
|
|
|
JOUBERT SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554972958
|
0.925 |
0.320 |
11 |
61397860 |
frameshift variant |
-/TA
|
ins
|
|
|
JOUBERT SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs767384710
|
0.925 |
0.320 |
11 |
61393970 |
frameshift variant |
T/-;TT
|
delins
|
4.0E-06
|
|
JOUBERT SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs780098806
|
1.000 |
0.200 |
11 |
61397809 |
missense variant |
C/T
|
snv
|
3.6E-05
|
4.2E-05
|
JOUBERT SYNDROME 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|