rs121913136
|
1.000 |
0.160 |
19 |
7170561 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
Donohue Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1988 |
2017 |
rs121913141
|
1.000 |
0.160 |
19 |
7184511 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
Donohue Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1988 |
2017 |
rs121913145
|
0.925 |
0.160 |
19 |
7184583 |
missense variant |
T/C
|
snv
|
8.0E-06
|
2.1E-05
|
Donohue Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.810 |
1.000 |
20 |
1988 |
2017 |
rs121913153
|
1.000 |
0.160 |
19 |
7267659 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06
|
|
Donohue Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1988 |
2017 |
rs121913158
|
1.000 |
0.160 |
19 |
7170704 |
missense variant |
C/G
|
snv
|
|
|
Donohue Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.810 |
1.000 |
20 |
1988 |
2017 |
rs121913159
|
1.000 |
0.160 |
19 |
7267559 |
missense variant |
G/C
|
snv
|
4.0E-06
|
|
Donohue Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1988 |
2017 |
rs1229730671
|
0.925 |
0.160 |
19 |
7122893 |
missense variant |
G/A
|
snv
|
|
|
Donohue Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.710 |
1.000 |
20 |
1988 |
2017 |
rs1555689937
|
1.000 |
0.160 |
19 |
7267830 |
missense variant |
A/G
|
snv
|
|
|
Donohue Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1988 |
2017 |
rs267607184
|
1.000 |
0.160 |
19 |
7172381 |
missense variant |
C/T
|
snv
|
|
|
Donohue Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1988 |
2017 |
rs52836744
|
1.000 |
0.160 |
19 |
7267825 |
missense variant |
C/T
|
snv
|
|
|
Donohue Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1988 |
2017 |
rs121913135
|
0.882 |
0.120 |
19 |
7125437 |
missense variant |
C/A
|
snv
|
|
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
17 |
1988 |
2017 |
rs121913138
|
1.000 |
0.120 |
19 |
7143072 |
missense variant |
C/A
|
snv
|
|
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
17 |
1988 |
2017 |
rs121913139
|
1.000 |
0.120 |
19 |
7122662 |
missense variant |
C/T
|
snv
|
|
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
17 |
1988 |
2017 |
rs121913140
|
1.000 |
0.120 |
19 |
7119563 |
stop gained |
C/G;T
|
snv
|
|
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
17 |
1988 |
2017 |
rs121913142
|
0.925 |
0.120 |
19 |
7172333 |
missense variant |
A/C
|
snv
|
|
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
17 |
1988 |
2017 |
rs121913147
|
0.925 |
0.120 |
19 |
7170554 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
17 |
1988 |
2017 |
rs121913148
|
1.000 |
0.120 |
19 |
7125482 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
17 |
1988 |
2017 |
rs1295645322
|
1.000 |
0.120 |
19 |
7120665 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
17 |
1988 |
2017 |
rs52800171
|
1.000 |
0.120 |
19 |
7120620 |
missense variant |
C/A
|
snv
|
|
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
17 |
1988 |
2017 |
rs52826008
|
1.000 |
0.120 |
19 |
7117072 |
missense variant |
C/G;T
|
snv
|
1.2E-05;
3.5E-04
|
|
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
17 |
1988 |
2017 |
rs1181860747
|
0.776 |
0.240 |
19 |
7122961 |
missense variant |
C/T
|
snv
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.070 |
1.000 |
7 |
2002 |
2019 |
rs121913143
|
1.000 |
0.160 |
19 |
7267871 |
missense variant |
G/T
|
snv
|
|
|
Rabson-Mendenhall Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.810 |
1.000 |
7 |
1990 |
2017 |
rs121913145
|
0.925 |
0.160 |
19 |
7184583 |
missense variant |
T/C
|
snv
|
8.0E-06
|
2.1E-05
|
Rabson-Mendenhall Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
7 |
1990 |
2017 |
rs764221583
|
1.000 |
0.160 |
19 |
7172402 |
missense variant |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Rabson-Mendenhall Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
7 |
1990 |
2017 |
rs781007453
|
0.925 |
0.160 |
19 |
7184524 |
missense variant |
G/A;C
|
snv
|
8.0E-06;
4.0E-06
|
|
Rabson-Mendenhall Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
7 |
1990 |
2017 |