rs121912992
|
1.000 |
0.080 |
6 |
7565478 |
missense variant |
C/G;T
|
snv
|
1.9E-04
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
2013 |
2017 |
rs2076295
|
0.882 |
0.080 |
6 |
7562999 |
intron variant |
T/G
|
snv
|
|
0.46
|
Lung Diseases, Interstitial
|
Respiratory Tract Diseases
|
0.800 |
1.000 |
1 |
2013 |
2013 |
rs121912993
|
1.000 |
0.080 |
6 |
7565442 |
missense variant |
T/G
|
snv
|
|
|
Skin Fragility-Woolly Hair Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
|
0 |
|
|
rs606231294
|
1.000 |
|
6 |
7571471 |
missense variant |
C/T
|
snv
|
|
|
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
|
|
0.800 |
|
0 |
|
|
rs606231295
|
0.925 |
0.120 |
6 |
7570553 |
missense variant |
C/T
|
snv
|
|
|
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
|
|
0.800 |
|
0 |
|
|
rs2076295
|
0.882 |
0.080 |
6 |
7562999 |
intron variant |
T/G
|
snv
|
|
0.46
|
Idiopathic Pulmonary Fibrosis
|
Respiratory Tract Diseases
|
0.730 |
1.000 |
3 |
2016 |
2019 |
rs2076295
|
0.882 |
0.080 |
6 |
7562999 |
intron variant |
T/G
|
snv
|
|
0.46
|
Chronic Obstructive Airway Disease
|
Respiratory Tract Diseases
|
0.710 |
1.000 |
3 |
2017 |
2019 |
rs746877365
|
0.882 |
0.160 |
6 |
7579527 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
8 |
2008 |
2019 |
rs34738426
|
1.000 |
0.080 |
6 |
7581514 |
missense variant |
G/T
|
snv
|
6.8E-05
|
3.5E-05
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
2002 |
2017 |
rs727504443
|
0.851 |
0.120 |
6 |
7565521 |
splice donor variant |
G/A
|
snv
|
|
7.0E-06
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
1999 |
2014 |
rs727504443
|
0.851 |
0.120 |
6 |
7565521 |
splice donor variant |
G/A
|
snv
|
|
7.0E-06
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
1999 |
2014 |
rs141026028
|
0.925 |
0.120 |
6 |
7583758 |
stop gained |
C/A;T
|
snv
|
4.0E-06;
8.0E-06
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2011 |
2017 |
rs141026028
|
0.925 |
0.120 |
6 |
7583758 |
stop gained |
C/A;T
|
snv
|
4.0E-06;
8.0E-06
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2011 |
2017 |
rs397516943
|
0.882 |
0.120 |
6 |
7559281 |
stop gained |
C/G;T
|
snv
|
8.0E-06
|
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2013 |
2017 |
rs727504443
|
0.851 |
0.120 |
6 |
7565521 |
splice donor variant |
G/A
|
snv
|
|
7.0E-06
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
1999 |
2014 |
rs727504443
|
0.851 |
0.120 |
6 |
7565521 |
splice donor variant |
G/A
|
snv
|
|
7.0E-06
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
1999 |
2014 |
rs746877365
|
0.882 |
0.160 |
6 |
7579527 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2008 |
2013 |
rs746877365
|
0.882 |
0.160 |
6 |
7579527 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2008 |
2013 |
rs1057517903
|
0.882 |
0.120 |
6 |
7575294 |
splice acceptor variant |
G/C
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs1057517903
|
0.882 |
0.120 |
6 |
7575294 |
splice acceptor variant |
G/C
|
snv
|
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs113726158
|
0.925 |
0.120 |
6 |
7565357 |
splice acceptor variant |
A/G;T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs113726158
|
0.925 |
0.120 |
6 |
7565357 |
splice acceptor variant |
A/G;T
|
snv
|
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs1554106743
|
0.925 |
0.120 |
6 |
7567819 |
frameshift variant |
G/-
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2005 |
2014 |
rs1554106743
|
0.925 |
0.120 |
6 |
7567819 |
frameshift variant |
G/-
|
delins
|
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2005 |
2014 |
rs1554106830
|
0.925 |
0.120 |
6 |
7568435 |
splice acceptor variant |
A/G
|
snv
|
|
|
Cardiomyopathy dilated with Woolly hair and keratoderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |