rs143312232
|
1.000 |
0.080 |
11 |
71441392 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
9.6E-05
|
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
22 |
1998 |
2017 |
rs138659167
|
0.807 |
0.320 |
11 |
71435840 |
splice acceptor variant |
C/A;G
|
snv
|
5.6E-05;
3.9E-03
|
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
21 |
1998 |
2015 |
rs80338856
|
1.000 |
0.080 |
11 |
71438986 |
missense variant |
G/A
|
snv
|
9.9E-05
|
1.2E-04
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
21 |
1998 |
2016 |
rs80338862
|
1.000 |
0.080 |
11 |
71435575 |
missense variant |
C/G;T
|
snv
|
7.3E-05
|
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
21 |
1998 |
2015 |
rs751604696
|
1.000 |
0.080 |
11 |
71435466 |
missense variant |
C/T
|
snv
|
1.2E-05;
2.4E-05
|
2.1E-05
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
18 |
1998 |
2017 |
rs104886035
|
1.000 |
0.080 |
11 |
71444163 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
16 |
1998 |
2015 |
rs1331331095
|
0.925 |
0.080 |
11 |
71435394 |
missense variant |
A/C;T
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
16 |
1994 |
2013 |
rs1331331095
|
0.925 |
0.080 |
11 |
71435394 |
missense variant |
A/C;T
|
snv
|
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
16 |
1994 |
2013 |
rs138659167
|
0.807 |
0.320 |
11 |
71435840 |
splice acceptor variant |
C/A;G
|
snv
|
5.6E-05;
3.9E-03
|
|
Movement Disorders
|
Nervous System Diseases
|
0.700 |
1.000 |
16 |
1994 |
2013 |
rs138659167
|
0.807 |
0.320 |
11 |
71435840 |
splice acceptor variant |
C/A;G
|
snv
|
5.6E-05;
3.9E-03
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
16 |
1994 |
2013 |
rs121912195
|
1.000 |
0.080 |
11 |
71442349 |
missense variant |
A/G
|
snv
|
|
1.4E-05
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
15 |
1998 |
2015 |
rs373306653
|
1.000 |
0.080 |
11 |
71435665 |
missense variant |
A/G
|
snv
|
1.2E-05
|
1.4E-05
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
15 |
1998 |
2015 |
rs80338857
|
1.000 |
0.080 |
11 |
71438985 |
missense variant |
C/T
|
snv
|
2.0E-05
|
3.5E-05
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
15 |
1998 |
2015 |
rs80338859
|
1.000 |
0.080 |
11 |
71435827 |
missense variant |
C/A
|
snv
|
1.7E-05
|
4.9E-05
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.850 |
1.000 |
15 |
1998 |
2017 |
rs80338860
|
1.000 |
0.080 |
11 |
71435749 |
missense variant |
G/A
|
snv
|
1.2E-05
|
7.0E-06
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
15 |
1998 |
2015 |
rs121909768
|
1.000 |
0.080 |
11 |
71435748 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
2.4E-05
|
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
14 |
1998 |
2015 |
rs80338853
|
1.000 |
0.080 |
11 |
71444036 |
missense variant |
G/A
|
snv
|
4.0E-05
|
9.1E-05
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.840 |
1.000 |
14 |
1998 |
2015 |
rs80338855
|
1.000 |
0.080 |
11 |
71441347 |
missense variant |
G/A;C
|
snv
|
4.8E-05;
4.0E-06
|
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
14 |
1998 |
2015 |
rs80338864
|
1.000 |
0.080 |
11 |
71435461 |
missense variant |
C/G;T
|
snv
|
1.2E-05;
3.6E-05
|
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
14 |
1998 |
2015 |
rs11555217
|
0.882 |
0.160 |
11 |
71441401 |
stop gained |
C/G;T
|
snv
|
7.7E-04
|
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.750 |
1.000 |
13 |
1998 |
2012 |
rs535561852
|
1.000 |
0.080 |
11 |
71435476 |
missense variant |
G/A
|
snv
|
1.2E-05
|
7.0E-06
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
13 |
1998 |
2015 |
rs61757582
|
1.000 |
0.080 |
11 |
71435593 |
missense variant |
G/A;C;T
|
snv
|
3.7E-05;
4.1E-06
|
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
13 |
1998 |
2015 |
rs777425801
|
1.000 |
0.080 |
11 |
71441413 |
missense variant |
C/T
|
snv
|
8.8E-05
|
9.1E-05
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
13 |
1998 |
2015 |
rs104886041
|
1.000 |
0.080 |
11 |
71444018 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
12 |
1998 |
2015 |
rs104894212
|
1.000 |
0.080 |
11 |
71438966 |
missense variant |
C/A
|
snv
|
|
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
10 |
1998 |
2015 |