rs1554106830
|
0.925 |
0.120 |
6 |
7568435 |
splice acceptor variant |
A/G
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs1554107741
|
0.925 |
0.120 |
6 |
7576457 |
splice donor variant |
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 |
rs1554107741
|
0.925 |
0.120 |
6 |
7576457 |
splice donor variant |
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 |
rs1554108012
|
0.882 |
0.120 |
6 |
7579323 |
stop gained |
C/T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2005 |
2014 |
rs1554108012
|
0.882 |
0.120 |
6 |
7579323 |
stop gained |
C/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 |
2005 |
2014 |
rs397516955
|
0.790 |
0.120 |
6 |
7562753 |
stop gained |
G/A
|
snv
|
|
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2006 |
2015 |
rs397516955
|
0.790 |
0.120 |
6 |
7562753 |
stop gained |
G/A
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2006 |
2015 |
rs727503000
|
1.000 |
0.080 |
6 |
7579663 |
frameshift variant |
-/A
|
delins
|
|
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2016 |
rs727503000
|
1.000 |
0.080 |
6 |
7579663 |
frameshift variant |
-/A
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2016 |
rs727503003
|
1.000 |
0.080 |
6 |
7581012 |
frameshift variant |
-/A
|
delins
|
|
|
Cardiomyopathy, Dilated
|
Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2011 |
rs727503003
|
1.000 |
0.080 |
6 |
7581012 |
frameshift variant |
-/A
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2011 |
rs777407386
|
1.000 |
0.080 |
6 |
7579954 |
missense variant |
G/A;C
|
snv
|
2.0E-05;
1.2E-05
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2002 |
2009 |
rs1554108859
|
0.925 |
0.120 |
6 |
7583727 |
frameshift variant |
-/A
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2013 |
2017 |
rs1554108859
|
0.925 |
0.120 |
6 |
7583727 |
frameshift variant |
-/A
|
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 |
2 |
2013 |
2017 |
rs1561701401
|
0.925 |
0.120 |
6 |
7583032 |
frameshift variant |
CA/-
|
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 |
2 |
2013 |
2017 |
rs1561701401
|
0.925 |
0.120 |
6 |
7583032 |
frameshift variant |
CA/-
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2013 |
2017 |
rs1561702640
|
0.925 |
0.120 |
6 |
7583764 |
frameshift variant |
TCAG/-
|
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 |
2 |
2011 |
2017 |
rs1561702640
|
0.925 |
0.120 |
6 |
7583764 |
frameshift variant |
TCAG/-
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2011 |
2017 |
rs1561703363
|
0.925 |
0.120 |
6 |
7584337 |
frameshift variant |
A/-
|
del
|
|
|
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 |
2 |
2011 |
2017 |
rs1561703363
|
0.925 |
0.120 |
6 |
7584337 |
frameshift variant |
A/-
|
del
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2011 |
2017 |
rs1561704475
|
0.925 |
0.120 |
6 |
7585133 |
frameshift variant |
CA/-
|
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 |
2 |
2011 |
2017 |
rs1561704475
|
0.925 |
0.120 |
6 |
7585133 |
frameshift variant |
CA/-
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2011 |
2017 |
rs2076295
|
0.882 |
0.080 |
6 |
7562999 |
intron variant |
T/G
|
snv
|
|
0.46
|
Vital capacity
|
|
0.700 |
1.000 |
2 |
2019 |
2019 |
rs397516955
|
0.790 |
0.120 |
6 |
7562753 |
stop gained |
G/A
|
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 |
2 |
2006 |
2014 |
rs397516955
|
0.790 |
0.120 |
6 |
7562753 |
stop gained |
G/A
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2006 |
2014 |