rs113624356
|
0.724 |
0.400 |
11 |
66526181 |
missense variant |
T/G
|
snv
|
1.5E-03
|
2.1E-03
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.810 |
1.000 |
13 |
2002 |
2014 |
rs113624356
|
0.724 |
0.400 |
11 |
66526181 |
missense variant |
T/G
|
snv
|
1.5E-03
|
2.1E-03
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.750 |
1.000 |
19 |
2002 |
2019 |
rs121917778
|
1.000 |
0.120 |
11 |
66530973 |
missense variant |
T/C
|
snv
|
1.2E-05
|
7.0E-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 |
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 |
rs113624356
|
0.724 |
0.400 |
11 |
66526181 |
missense variant |
T/G
|
snv
|
1.5E-03
|
2.1E-03
|
Retinitis Pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
1.000 |
2 |
2002 |
2019 |
rs113624356
|
0.724 |
0.400 |
11 |
66526181 |
missense variant |
T/G
|
snv
|
1.5E-03
|
2.1E-03
|
Retinal Dystrophies
|
Eye Diseases
|
0.700 |
1.000 |
2 |
2002 |
2016 |
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 |
rs775769424
|
0.776 |
0.280 |
11 |
66530934 |
frameshift variant |
TG/-
|
del
|
|
1.4E-05
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2011 |
2014 |
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 |
rs113624356
|
0.724 |
0.400 |
11 |
66526181 |
missense variant |
T/G
|
snv
|
1.5E-03
|
2.1E-03
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1160669210
|
1.000 |
0.120 |
11 |
66526189 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1486200900
|
1.000 |
0.120 |
11 |
66529956 |
splice region variant |
A/G
|
snv
|
|
7.0E-06
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
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 |
rs8432
|
|
|
11 |
66532044 |
3 prime UTR variant |
A/G
|
snv
|
0.55
|
0.66
|
Finding of Mean Corpuscular Hemoglobin
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |