rs137852926
|
1.000 |
0.120 |
4 |
5681282 |
missense variant |
A/C
|
snv
|
8.0E-06
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.800 |
1.000 |
2 |
2002 |
2003 |
rs137852924
|
0.882 |
0.160 |
4 |
5640789 |
stop gained |
G/A
|
snv
|
4.8E-05
|
3.5E-05
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.710 |
1.000 |
3 |
2010 |
2012 |
rs770918273
|
1.000 |
0.120 |
4 |
5622554 |
stop gained |
C/T
|
snv
|
2.0E-05
|
1.4E-05
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.710 |
1.000 |
1 |
2012 |
2012 |
rs137852927
|
0.925 |
0.160 |
4 |
5576247 |
stop gained |
G/A
|
snv
|
8.0E-05
|
7.7E-05
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
2002 |
2015 |
rs200300612
|
0.925 |
0.160 |
4 |
5565256 |
splice donor variant |
A/G
|
snv
|
3.2E-05
|
2.8E-05
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2007 |
2013 |
rs781096099
|
0.925 |
0.160 |
4 |
5694333 |
splice donor variant |
A/C;G
|
snv
|
8.0E-06
|
|
Weyers acrofacial dysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
3 |
2007 |
2009 |
rs781096099
|
0.925 |
0.160 |
4 |
5694333 |
splice donor variant |
A/C;G
|
snv
|
8.0E-06
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
3 |
2007 |
2009 |
rs1236566474
|
1.000 |
0.120 |
4 |
5685441 |
stop gained |
G/A
|
snv
|
1.2E-05
|
7.0E-06
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2007 |
2009 |
rs137852928
|
1.000 |
0.120 |
4 |
5584832 |
missense variant |
G/A;T
|
snv
|
1.6E-04;
4.0E-06
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2002 |
2003 |
rs146538906
|
1.000 |
0.120 |
4 |
5618531 |
stop gained |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2011 |
2016 |
rs1553857801
|
1.000 |
0.120 |
4 |
5711382 |
start lost |
T/A
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2009 |
2017 |
rs200300612
|
0.925 |
0.160 |
4 |
5565256 |
splice donor variant |
A/G
|
snv
|
3.2E-05
|
2.8E-05
|
Weyers acrofacial dysostosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
2 |
2007 |
2013 |
rs548681312
|
1.000 |
0.120 |
4 |
5622562 |
stop gained |
G/A
|
snv
|
8.0E-06
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2009 |
2016 |
rs73198165
|
1.000 |
0.120 |
4 |
5625766 |
stop gained |
G/A;T
|
snv
|
3.2E-05;
3.9E-03
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2009 |
2012 |
rs751356206
|
0.925 |
0.160 |
4 |
5622775 |
stop gained |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2007 |
2015 |
rs760382778
|
0.925 |
0.160 |
4 |
5618564 |
stop gained |
G/A
|
snv
|
1.2E-05
|
2.1E-05
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2009 |
2015 |
rs767072839
|
1.000 |
0.120 |
4 |
5663228 |
stop gained |
T/A;C
|
snv
|
4.0E-06
|
5.6E-05
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2009 |
2013 |
rs886037763
|
1.000 |
0.120 |
4 |
5615505 |
frameshift variant |
T/-
|
delins
|
4.0E-06
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2007 |
2016 |
rs1159758018
|
1.000 |
0.120 |
4 |
5631845 |
frameshift variant |
TCCC/-
|
del
|
|
7.0E-06
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs140854723
|
|
|
4 |
5634585 |
intron variant |
G/A;T
|
snv
|
|
|
Myopathy
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1553815019
|
0.925 |
0.120 |
4 |
5574684 |
splice donor variant |
C/T
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1553850677
|
1.000 |
0.120 |
4 |
5685417 |
stop gained |
C/A
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs186725382
|
|
|
4 |
5634346 |
intron variant |
G/A
|
snv
|
|
5.4E-04
|
Vascular Endothelial Growth Factor Measurement
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs3774854
|
0.925 |
0.120 |
4 |
5709641 |
upstream gene variant |
G/A
|
snv
|
|
0.33
|
Chronic Obstructive Airway Disease
|
Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs3774854
|
0.925 |
0.120 |
4 |
5709641 |
upstream gene variant |
G/A
|
snv
|
|
0.33
|
Gastrointestinal carcinoma
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2017 |
2017 |