rs57920071
|
0.763 |
0.320 |
1 |
156136984 |
missense variant |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
Familial Partial Lipodystrophy, Type 2
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.830 |
1.000 |
3 |
2014 |
2018 |
rs57318642
|
0.851 |
0.200 |
1 |
156137203 |
missense variant |
C/T
|
snv
|
1.4E-05
|
1.4E-05
|
Progeria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.820 |
1.000 |
13 |
2003 |
2013 |
rs60310264
|
0.827 |
0.200 |
1 |
156130693 |
missense variant |
G/A
|
snv
|
|
|
Progeria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.820 |
1.000 |
3 |
2003 |
2017 |
rs267607578
|
0.925 |
0.120 |
1 |
156136952 |
missense variant |
G/A;C
|
snv
|
|
1.4E-05
|
Cardiomyopathy, Familial Idiopathic
|
Cardiovascular Diseases
|
0.810 |
1.000 |
24 |
1999 |
2014 |
rs56984562
|
0.827 |
0.200 |
1 |
156137666 |
missense variant |
C/A;G;T
|
snv
|
|
|
Cardiomyopathy, Familial Idiopathic
|
Cardiovascular Diseases
|
0.810 |
1.000 |
24 |
1999 |
2017 |
rs28933093
|
0.882 |
0.160 |
1 |
156130741 |
missense variant |
G/A
|
snv
|
|
|
Cardiomyopathy, Familial Idiopathic
|
Cardiovascular Diseases
|
0.810 |
1.000 |
17 |
1999 |
2012 |
rs57520892
|
0.776 |
0.200 |
1 |
156137204 |
missense variant |
G/A;C
|
snv
|
4.1E-05
|
|
Mandibuloacral dysostosis
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.810 |
1.000 |
3 |
2002 |
2006 |
rs58932704
|
0.776 |
0.200 |
1 |
156136413 |
missense variant |
C/T
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.810 |
1.000 |
3 |
2008 |
2017 |
rs60580541
|
1.000 |
0.120 |
1 |
156137210 |
missense variant |
C/T
|
snv
|
|
|
Mandibuloacral dysostosis
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.810 |
1.000 |
1 |
2005 |
2005 |
rs60890628
|
0.776 |
0.200 |
1 |
156138507 |
missense variant |
C/T
|
snv
|
1.5E-04
|
1.0E-04
|
Mandibuloacral dysostosis
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.810 |
1.000 |
1 |
2006 |
2006 |
rs267607570
|
0.925 |
0.120 |
1 |
156130757 |
missense variant |
G/A;C
|
snv
|
4.8E-05
|
|
Cardiomyopathy, Familial Idiopathic
|
Cardiovascular Diseases
|
0.800 |
1.000 |
20 |
1999 |
2017 |
rs28933090
|
0.925 |
0.160 |
1 |
156115172 |
missense variant |
T/A;G
|
snv
|
|
|
Cardiomyopathy, Familial Idiopathic
|
Cardiovascular Diseases
|
0.800 |
1.000 |
20 |
1999 |
2017 |
rs28933091
|
0.882 |
0.160 |
1 |
156134474 |
missense variant |
C/A;G
|
snv
|
|
|
Cardiomyopathy, Familial Idiopathic
|
Cardiovascular Diseases
|
0.800 |
1.000 |
20 |
1999 |
2017 |
rs28933092
|
1.000 |
0.040 |
1 |
156134497 |
missense variant |
A/G;T
|
snv
|
|
|
Cardiomyopathy, Familial Idiopathic
|
Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
1999 |
2012 |
rs11575937
|
0.653 |
0.480 |
1 |
156136985 |
missense variant |
G/A;T
|
snv
|
|
|
Familial Partial Lipodystrophy, Type 2
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
11 |
2000 |
2014 |
rs57520892
|
0.776 |
0.200 |
1 |
156137204 |
missense variant |
G/A;C
|
snv
|
4.1E-05
|
|
Familial Partial Lipodystrophy, Type 2
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
11 |
2000 |
2014 |
rs57629361
|
0.827 |
0.280 |
1 |
156137207 |
missense variant |
C/A;G;T
|
snv
|
9.3E-06
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
11 |
1991 |
2014 |
rs57830985
|
0.925 |
0.080 |
1 |
156138534 |
missense variant |
G/A;T
|
snv
|
8.2E-06
|
7.0E-06
|
Familial Partial Lipodystrophy, Type 2
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
11 |
2000 |
2014 |
rs61282106
|
0.925 |
0.080 |
1 |
156136934 |
missense variant |
G/A
|
snv
|
|
|
Familial Partial Lipodystrophy, Type 2
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
11 |
2000 |
2014 |
rs121912496
|
0.882 |
0.120 |
1 |
156134910 |
missense variant |
C/G;T
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2008 |
2017 |
rs57207746
|
0.925 |
0.120 |
1 |
156134860 |
missense variant |
G/A
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2000 |
2017 |
rs58922911
|
0.925 |
0.320 |
1 |
156115094 |
missense variant |
T/G
|
snv
|
|
|
Malouf syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
2003 |
2009 |
rs199474724
|
0.851 |
0.120 |
1 |
156134839 |
missense variant |
G/A
|
snv
|
|
|
Emery-Dreifuss Muscular Dystrophy 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2012 |
2017 |
rs57520892
|
0.776 |
0.200 |
1 |
156137204 |
missense variant |
G/A;C
|
snv
|
4.1E-05
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2012 |
2017 |
rs60934003
|
0.882 |
0.160 |
1 |
156137213 |
missense variant |
T/C
|
snv
|
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2012 |
2017 |