rs180177035
|
0.752 |
0.280 |
7 |
140801502 |
missense variant |
T/C
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
20 |
2006 |
2018 |
rs180177034
|
0.882 |
0.200 |
7 |
140801536 |
missense variant |
C/G
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
6 |
2006 |
2014 |
rs397507466
|
0.807 |
0.280 |
7 |
140801537 |
missense variant |
T/A;C;G
|
snv
|
4.0E-06
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
3 |
2009 |
2014 |
rs180177037
|
1.000 |
0.160 |
7 |
140778013 |
missense variant |
T/C
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
2 |
2008 |
2014 |
rs180177040
|
0.790 |
0.360 |
7 |
140754187 |
missense variant |
T/C;G
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
13 |
2006 |
2014 |
rs397507473
|
1.000 |
0.160 |
7 |
140781605 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
8 |
2006 |
2009 |
rs121913364
|
0.641 |
0.520 |
7 |
140753334 |
missense variant |
T/C;G
|
snv
|
4.0E-06
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
7 |
2006 |
2016 |
rs397507483
|
0.790 |
0.400 |
7 |
140753348 |
missense variant |
C/A;T
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
7 |
2006 |
2009 |
rs180177036
|
0.925 |
0.200 |
7 |
140778053 |
missense variant |
C/A;G
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
6 |
2006 |
2014 |
rs121913341
|
0.851 |
0.280 |
7 |
140753350 |
missense variant |
A/C;T
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
5 |
2006 |
2012 |
rs121913375
|
0.851 |
0.240 |
7 |
140753339 |
missense variant |
G/A;C
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
5 |
2006 |
2014 |
rs180177042
|
0.807 |
0.280 |
7 |
140749365 |
missense variant |
A/C;T
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
5 |
2006 |
2014 |
rs387906661
|
0.807 |
0.280 |
7 |
140801551 |
missense variant |
T/G
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
5 |
2006 |
2009 |
rs121913355
|
0.641 |
0.520 |
7 |
140781602 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
4 |
2006 |
2009 |
rs869025606
|
1.000 |
0.160 |
7 |
140781609 |
missense variant |
A/C
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
4 |
2006 |
2009 |
rs397507475
|
0.925 |
0.200 |
7 |
140778054 |
missense variant |
A/G
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
3 |
2007 |
2012 |
rs113488022
|
0.351 |
0.840 |
7 |
140753336 |
missense variant |
A/C;G;T
|
snv
|
4.0E-06
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
1 |
2011 |
2011 |
rs180177039
|
0.851 |
0.160 |
7 |
140778006 |
missense variant |
T/A;C;G
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
2006 |
2008 |
rs121913348
|
0.763 |
0.480 |
7 |
140781617 |
missense variant |
C/A;G;T
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2003 |
2008 |
rs121913369
|
0.790 |
0.280 |
7 |
140753346 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2004 |
2012 |
rs180177038
|
0.851 |
0.200 |
7 |
140778007 |
missense variant |
C/G;T
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2006 |
2012 |
rs397507470
|
1.000 |
0.160 |
7 |
140801488 |
missense variant |
G/T
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2006 |
2009 |
rs397507476
|
0.882 |
0.200 |
7 |
140778011 |
missense variant |
T/A;G
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2006 |
2009 |
rs397507486
|
1.000 |
0.160 |
7 |
140739813 |
missense variant |
T/C
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2006 |
2009 |
rs180177041
|
0.851 |
0.240 |
7 |
140777006 |
missense variant |
C/G
|
snv
|
|
|
Cardio-facio-cutaneous syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2006 |
2008 |