rs74315396
|
0.827 |
0.240 |
20 |
10413405 |
missense variant |
T/C
|
snv
|
6.8E-05
|
1.1E-04
|
BARDET-BIEDL SYNDROME 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
17 |
2000 |
2017 |
rs74315398
|
1.000 |
0.120 |
20 |
10412685 |
missense variant |
A/G
|
snv
|
6.4E-05
|
6.3E-05
|
BARDET-BIEDL SYNDROME 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
17 |
2000 |
2017 |
rs74315399
|
0.925 |
0.240 |
20 |
10413346 |
missense variant |
T/C
|
snv
|
2.0E-05
|
1.4E-05
|
BARDET-BIEDL SYNDROME 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
17 |
2000 |
2017 |
rs74315396
|
0.827 |
0.240 |
20 |
10413405 |
missense variant |
T/C
|
snv
|
6.8E-05
|
1.1E-04
|
Kaufman-McKusick syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
4 |
2000 |
2017 |
rs74315394
|
0.851 |
0.440 |
20 |
10412791 |
missense variant |
C/A
|
snv
|
5.2E-03
|
5.0E-03
|
Kaufman-McKusick syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.720 |
1.000 |
3 |
2000 |
2017 |
rs74315394
|
0.851 |
0.440 |
20 |
10412791 |
missense variant |
C/A
|
snv
|
5.2E-03
|
5.0E-03
|
BARDET-BIEDL SYNDROME 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.710 |
1.000 |
18 |
2000 |
2017 |
rs1297985227
|
0.925 |
0.120 |
20 |
10413220 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
BARDET-BIEDL SYNDROME 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
17 |
2000 |
2017 |
rs142327258
|
1.000 |
0.120 |
20 |
10405486 |
missense variant |
C/A;G;T
|
snv
|
8.0E-06;
2.4E-05;
3.0E-04
|
|
BARDET-BIEDL SYNDROME 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
17 |
2000 |
2017 |
rs281797259
|
0.925 |
0.120 |
20 |
10405464 |
missense variant |
C/G
|
snv
|
|
|
BARDET-BIEDL SYNDROME 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
17 |
2000 |
2017 |
rs756083063
|
1.000 |
0.120 |
20 |
10412619 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
BARDET-BIEDL SYNDROME 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
17 |
2000 |
2017 |
rs766132697
|
1.000 |
0.120 |
20 |
10413394 |
missense variant |
C/G
|
snv
|
3.6E-05
|
6.3E-05
|
BARDET-BIEDL SYNDROME 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
17 |
2000 |
2017 |
rs779116830
|
1.000 |
0.120 |
20 |
10408755 |
missense variant |
C/T
|
snv
|
1.2E-05
|
|
BARDET-BIEDL SYNDROME 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
17 |
2000 |
2017 |
rs1555801973
|
|
|
20 |
10412669 |
frameshift variant |
-/T
|
delins
|
|
|
Overgrowth
|
|
0.700 |
1.000 |
5 |
1999 |
2016 |
rs74315396
|
0.827 |
0.240 |
20 |
10413405 |
missense variant |
T/C
|
snv
|
6.8E-05
|
1.1E-04
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2000 |
2010 |
rs281797258
|
0.882 |
0.400 |
20 |
10413265 |
missense variant |
G/A
|
snv
|
4.0E-06
|
2.4E-04
|
Kaufman-McKusick syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2000 |
2017 |
rs1297985227
|
0.925 |
0.120 |
20 |
10413220 |
missense 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 |
2019 |
2019 |
rs1306231185
|
0.925 |
0.120 |
20 |
10407645 |
stop gained |
-/TTCA
|
delins
|
4.0E-06
|
7.0E-06
|
Progressive cone dystrophy (without rod involvement)
|
Eye Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1306231185
|
0.925 |
0.120 |
20 |
10407645 |
stop gained |
-/TTCA
|
delins
|
4.0E-06
|
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 |
rs1396840386
|
1.000 |
0.120 |
20 |
10407653 |
missense variant |
C/A
|
snv
|
4.0E-06
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1568662687
|
1.000 |
0.120 |
20 |
10405482 |
frameshift variant |
A/-
|
delins
|
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1568666460
|
1.000 |
0.120 |
20 |
10413023 |
stop gained |
A/T
|
snv
|
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs74315397
|
0.925 |
0.120 |
20 |
10412723 |
stop gained |
A/C;G;T
|
snv
|
4.0E-05
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs753338844
|
1.000 |
0.120 |
20 |
10413396 |
stop gained |
G/C
|
snv
|
1.2E-05
|
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1057516054
|
1.000 |
0.160 |
20 |
10405626 |
stop gained |
A/C
|
snv
|
|
|
Kaufman-McKusick syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs113994195
|
1.000 |
0.120 |
20 |
10413074 |
frameshift variant |
ACTACTAAAGT/-
|
delins
|
|
|
Bardet-Biedl Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|