rs1390387214
|
1.000 |
0.080 |
18 |
31087752 |
missense variant |
A/G
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2006 |
2017 |
rs142331975
|
1.000 |
0.080 |
18 |
31089462 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2006 |
2017 |
rs368299411
|
1.000 |
0.080 |
18 |
31082985 |
missense variant |
T/C
|
snv
|
2.8E-05
|
2.8E-05
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2006 |
2017 |
rs397517404
|
0.925 |
0.080 |
18 |
31086694 |
missense variant |
G/A;T
|
snv
|
1.6E-05
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2006 |
2017 |
rs397514042
|
1.000 |
0.080 |
18 |
31087815 |
splice acceptor variant |
T/C
|
snv
|
1.6E-05
|
1.4E-05
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2009 |
2013 |
rs397517408
|
1.000 |
0.080 |
18 |
31093617 |
frameshift variant |
G/-
|
del
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2010 |
2016 |
rs794728072
|
1.000 |
0.080 |
18 |
31071604 |
splice donor variant |
C/-
|
del
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2009 |
2013 |
rs777688726
|
1.000 |
0.080 |
18 |
31082969 |
missense variant |
A/G
|
snv
|
8.0E-06
|
3.5E-05
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2019 |
2019 |
rs1555639134
|
1.000 |
0.080 |
18 |
31083007 |
stop gained |
A/C
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1789063
|
|
|
18 |
31093950 |
intron variant |
T/A
|
snv
|
|
0.74
|
Blood Protein Measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs397517404
|
0.925 |
0.080 |
18 |
31086694 |
missense variant |
G/A;T
|
snv
|
1.6E-05
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs397517406
|
1.000 |
0.080 |
18 |
31086672 |
stop gained |
G/C;T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs769022411
|
1.000 |
0.080 |
18 |
31070776 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1060502989
|
1.000 |
0.080 |
18 |
31086635 |
frameshift variant |
-/T
|
delins
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1395367133
|
1.000 |
0.080 |
18 |
31101937 |
frameshift variant |
CC/-
|
del
|
|
7.0E-06
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs145476705
|
0.925 |
0.080 |
18 |
31087781 |
stop gained |
A/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs145476705
|
0.925 |
0.080 |
18 |
31087781 |
stop gained |
A/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1567971476
|
1.000 |
0.080 |
18 |
31068939 |
stop gained |
G/T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs193922708
|
|
|
18 |
31086683 |
missense variant |
G/A;T
|
snv
|
4.8E-05
|
|
Cardiomyopathies
|
Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs377272752
|
1.000 |
0.080 |
18 |
31069032 |
inframe deletion |
CCT/-
|
delins
|
|
5.2E-04
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397514041
|
1.000 |
0.080 |
18 |
31080186 |
frameshift variant |
G/-
|
del
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397514043
|
1.000 |
|
18 |
31074730 |
frameshift variant |
C/-
|
del
|
|
|
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
|
|
0.700 |
|
0 |
|
|
rs397517393
|
1.000 |
0.080 |
18 |
31093558 |
splice donor variant |
C/T
|
snv
|
|
|
Arrhythmogenic Right Ventricular Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397517408
|
1.000 |
0.080 |
18 |
31093617 |
frameshift variant |
G/-
|
del
|
|
|
Cardiomyopathies
|
Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs746173561
|
1.000 |
0.080 |
18 |
31087695 |
missense variant |
A/G
|
snv
|
4.0E-06;
4.0E-06
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|