rs116647652
|
1.000 |
0.160 |
8 |
93786285 |
stop gained |
C/A;T
|
snv
|
8.0E-06
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs137853107
|
0.882 |
0.360 |
8 |
93791282 |
missense variant |
A/G;T
|
snv
|
8.0E-06;
4.0E-06
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2007 |
2015 |
rs137853108
|
0.851 |
0.320 |
8 |
93765617 |
stop gained |
A/T
|
snv
|
1.8E-04
|
2.6E-04
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1554555063
|
0.882 |
0.160 |
8 |
93791324 |
splice region variant |
G/A
|
snv
|
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554557920
|
1.000 |
0.160 |
8 |
93803677 |
splice donor variant |
TGAGTAATGTAA/G
|
delins
|
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs199821258
|
0.925 |
0.320 |
8 |
93765648 |
splice donor variant |
T/G
|
snv
|
5.6E-05
|
2.8E-05
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs201893408
|
0.695 |
0.480 |
8 |
93795970 |
missense variant |
T/A;C
|
snv
|
8.0E-06;
1.5E-04
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs202149403
|
0.851 |
0.360 |
8 |
93780633 |
missense variant |
T/C;G
|
snv
|
8.4E-05
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs267607114
|
1.000 |
0.160 |
8 |
93793256 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2007 |
2015 |
rs267607115
|
0.925 |
0.280 |
8 |
93795503 |
missense variant |
T/C
|
snv
|
4.0E-06
|
1.4E-05
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2009 |
2015 |
rs267607116
|
0.851 |
0.160 |
8 |
93808861 |
missense variant |
G/A;C
|
snv
|
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs267607118
|
1.000 |
0.160 |
8 |
93755044 |
stop gained |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267607119
|
0.827 |
0.360 |
8 |
93808898 |
missense variant |
T/C
|
snv
|
4.0E-05
|
8.4E-05
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2007 |
2015 |
rs386834180
|
0.776 |
0.360 |
8 |
93781725 |
missense variant |
T/C
|
snv
|
2.0E-05
|
4.2E-05
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs386834192
|
0.925 |
0.320 |
8 |
93803685 |
splice donor variant |
-/T
|
delins
|
|
1.4E-05
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs386834202
|
0.851 |
0.320 |
8 |
93765574 |
frameshift variant |
AG/-
|
del
|
4.0E-06;
1.9E-04
|
5.6E-05
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs386834205
|
0.925 |
0.320 |
8 |
93772612 |
stop gained |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs749435317
|
0.882 |
0.280 |
8 |
93786287 |
frameshift variant |
A/-
|
del
|
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs750950408
|
0.925 |
0.280 |
8 |
93765414 |
missense variant |
G/A;T
|
snv
|
2.4E-05;
4.0E-06
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs751309268
|
1.000 |
0.160 |
8 |
93755854 |
stop gained |
C/A;T
|
snv
|
8.1E-06
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs751517725
|
1.000 |
0.160 |
8 |
93803652 |
stop gained |
C/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs752362727
|
0.716 |
0.480 |
8 |
93786255 |
missense variant |
C/T
|
snv
|
2.0E-05
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs758948621
|
0.925 |
0.280 |
8 |
93797329 |
splice acceptor variant |
A/C
|
snv
|
4.0E-06
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs762543032
|
1.000 |
0.160 |
8 |
93755798 |
missense variant |
C/T
|
snv
|
4.3E-06
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2007 |
2015 |
rs771551765
|
0.925 |
0.200 |
8 |
93815388 |
missense variant |
G/A
|
snv
|
8.0E-06
|
4.2E-05
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1999 |
2017 |