rs778225393
|
1.000 |
0.120 |
11 |
66530928 |
missense variant |
T/A
|
snv
|
8.0E-06
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2002 |
2011 |
rs121917777
|
0.925 |
0.120 |
11 |
66531692 |
stop gained |
G/A;T
|
snv
|
4.0E-06;
1.6E-05
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2002 |
2012 |
rs768443448
|
0.925 |
0.120 |
11 |
66526753 |
stop gained |
C/G;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2003 |
2011 |
rs768443448
|
0.925 |
0.120 |
11 |
66526753 |
stop gained |
C/G;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2003 |
2011 |
rs587777830
|
0.925 |
0.120 |
11 |
66523476 |
frameshift variant |
A/-
|
del
|
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2002 |
2015 |
rs786204701
|
1.000 |
0.120 |
11 |
66526138 |
frameshift variant |
CTTTG/-
|
delins
|
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2003 |
2017 |
rs1014835928
|
1.000 |
0.120 |
11 |
66526786 |
stop gained |
C/T
|
snv
|
8.0E-06
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2003 |
2003 |
rs1057517143
|
1.000 |
0.120 |
11 |
66523496 |
stop gained |
C/T
|
snv
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2003 |
2014 |
rs1555050404
|
1.000 |
0.120 |
11 |
66531685 |
frameshift variant |
C/-
|
delins
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2003 |
2017 |
rs746875134
|
0.925 |
0.120 |
11 |
66523577 |
splice donor variant |
G/A;C
|
snv
|
8.0E-06;
4.0E-06
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2003 |
2012 |
rs1057517332
|
0.925 |
0.120 |
11 |
66523454 |
splice acceptor variant |
A/G
|
snv
|
4.0E-06
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs1565287512
|
1.000 |
0.120 |
11 |
66526137 |
missense variant |
C/G
|
snv
|
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1565287921
|
1.000 |
0.120 |
11 |
66526749 |
frameshift variant |
-/C
|
delins
|
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs1565291081
|
1.000 |
0.120 |
11 |
66531741 |
missense variant |
A/G
|
snv
|
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs746875134
|
0.925 |
0.120 |
11 |
66523577 |
splice donor variant |
G/A;C
|
snv
|
8.0E-06;
4.0E-06
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs869025205
|
1.000 |
0.120 |
11 |
66523784 |
stop gained |
C/T
|
snv
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1057516330
|
1.000 |
0.120 |
11 |
66521331 |
frameshift variant |
G/-
|
delins
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516371
|
1.000 |
0.120 |
11 |
66523751 |
frameshift variant |
C/-
|
delins
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516427
|
1.000 |
0.120 |
11 |
66523480 |
stop gained |
C/A
|
snv
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516533
|
0.925 |
0.120 |
11 |
66523842 |
frameshift variant |
T/-
|
delins
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516533
|
0.925 |
0.120 |
11 |
66523842 |
frameshift variant |
T/-
|
delins
|
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516901
|
1.000 |
0.120 |
11 |
66529901 |
frameshift variant |
C/-
|
delins
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517332
|
0.925 |
0.120 |
11 |
66523454 |
splice acceptor variant |
A/G
|
snv
|
4.0E-06
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060503690
|
0.925 |
0.120 |
11 |
66526708 |
stop gained |
G/T
|
snv
|
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060503690
|
0.925 |
0.120 |
11 |
66526708 |
stop gained |
G/T
|
snv
|
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|