rs6108572
|
1.000 |
0.040 |
20 |
10432111 |
intron variant |
A/T
|
snv
|
|
0.52
|
Metabolic Syndrome X
|
Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs1547
|
0.925 |
0.080 |
20 |
10405411 |
missense variant |
G/A
|
snv
|
0.14
|
0.14
|
Metabolic Syndrome X
|
Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs1547
|
0.925 |
0.080 |
20 |
10405411 |
missense variant |
G/A
|
snv
|
0.14
|
0.14
|
Obesity
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs1545
|
0.925 |
0.080 |
20 |
10405365 |
missense variant |
C/A
|
snv
|
0.14
|
0.14
|
Metabolic Syndrome X
|
Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs1545
|
0.925 |
0.080 |
20 |
10405365 |
missense variant |
C/A
|
snv
|
0.14
|
0.14
|
Obesity
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs2294901
|
1.000 |
0.040 |
20 |
10404855 |
3 prime UTR variant |
A/G
|
snv
|
|
0.14
|
Metabolic Syndrome X
|
Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs6133922
|
1.000 |
0.040 |
20 |
10420425 |
intron variant |
A/G
|
snv
|
|
6.4E-02
|
Metabolic Syndrome X
|
Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
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 |
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
|
Obesity
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs74315394
|
0.851 |
0.440 |
20 |
10412791 |
missense variant |
C/A
|
snv
|
5.2E-03
|
5.0E-03
|
Meckel syndrome type 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
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 |
rs281797258
|
0.882 |
0.400 |
20 |
10413265 |
missense variant |
G/A
|
snv
|
4.0E-06
|
2.4E-04
|
Meckel syndrome type 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs281797258
|
0.882 |
0.400 |
20 |
10413265 |
missense variant |
G/A
|
snv
|
4.0E-06
|
2.4E-04
|
BARDET-BIEDL SYNDROME 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs149051148
|
1.000 |
0.120 |
20 |
10405407 |
missense variant |
C/T
|
snv
|
3.1E-04
|
1.4E-04
|
BARDET-BIEDL SYNDROME 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
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 |
rs74315396
|
0.827 |
0.240 |
20 |
10413405 |
missense variant |
T/C
|
snv
|
6.8E-05
|
1.1E-04
|
Bardet-Biedl syndrome 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs74315396
|
0.827 |
0.240 |
20 |
10413405 |
missense variant |
T/C
|
snv
|
6.8E-05
|
1.1E-04
|
BARDET-BIEDL SYNDROME 2/6, DIGENIC
|
|
0.700 |
|
0 |
|
|
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 |
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 |
rs74315399
|
0.925 |
0.240 |
20 |
10413346 |
missense variant |
T/C
|
snv
|
2.0E-05
|
1.4E-05
|
Kaufman-McKusick syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs760185677
|
1.000 |
0.120 |
20 |
10412806 |
missense variant |
T/C
|
snv
|
4.0E-06
|
1.4E-05
|
BARDET-BIEDL SYNDROME 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|