rs786200867
|
0.925 |
0.280 |
8 |
93808957 |
splice donor variant |
G/T
|
snv
|
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs797046045
|
0.925 |
0.280 |
8 |
93755851 |
missense variant |
G/T
|
snv
|
|
7.4E-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 |
rs863225224
|
1.000 |
0.160 |
8 |
93793299 |
splice region variant |
A/G
|
snv
|
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs863225225
|
0.925 |
0.280 |
8 |
93797184 |
missense variant |
C/A
|
snv
|
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs863225226
|
0.925 |
0.280 |
8 |
93758559 |
missense variant |
C/G
|
snv
|
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs863225227
|
0.925 |
0.280 |
8 |
93780647 |
missense variant |
A/G
|
snv
|
|
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 |
rs863225228
|
0.925 |
0.280 |
8 |
93787884 |
missense variant |
C/T
|
snv
|
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs863225229
|
1.000 |
0.160 |
8 |
93780608 |
missense variant |
A/G
|
snv
|
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs863225230
|
1.000 |
0.160 |
8 |
93804807 |
missense variant |
C/A
|
snv
|
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs863225231
|
0.925 |
0.280 |
8 |
93782455 |
missense variant |
C/G
|
snv
|
|
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 |
rs863225232
|
0.925 |
0.280 |
8 |
93782402 |
missense variant |
C/T
|
snv
|
|
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 |
rs863225233
|
0.925 |
0.280 |
8 |
93815365 |
missense variant |
T/G
|
snv
|
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs863225234
|
0.925 |
0.280 |
8 |
93808922 |
missense variant |
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 |
2015 |
2015 |
rs863225235
|
0.790 |
0.360 |
8 |
93782444 |
missense variant |
C/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
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs863225236
|
1.000 |
0.160 |
8 |
93815341 |
missense variant |
G/A
|
snv
|
|
|
JOUBERT SYNDROME 6
|
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs863225237
|
1.000 |
0.160 |
8 |
93782410 |
stop gained |
G/A;C;T
|
snv
|
4.0E-06;
4.0E-06;
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 |
rs863225238
|
1.000 |
0.160 |
8 |
93797456 |
missense variant |
C/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 |
rs863225239
|
1.000 |
0.160 |
8 |
93809166 |
splice region variant |
G/A
|
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 |
rs863225240
|
1.000 |
0.160 |
8 |
93803689 |
splice region variant |
G/-
|
del
|
|
|
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 |
|
|
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 |
|
|