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 |
rs1214848359
|
1.000 |
0.120 |
4 |
5697648 |
splice acceptor variant |
C/A
|
snv
|
|
7.0E-06
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1221185345
|
0.925 |
0.160 |
4 |
5708363 |
frameshift variant |
GATCCCGGGG/-
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
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 |
rs1294715119
|
1.000 |
0.120 |
4 |
5685368 |
splice donor variant |
A/G
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1305301849
|
1.000 |
0.120 |
4 |
5565319 |
stop gained |
G/A
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1307502841
|
1.000 |
0.120 |
4 |
5584622 |
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 |
|
0 |
|
|
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 |
rs137852925
|
1.000 |
0.120 |
4 |
5628590 |
stop gained |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
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 |
rs1420414097
|
1.000 |
0.120 |
4 |
5708306 |
frameshift variant |
CTCCGCCCCG/-
|
delins
|
|
1.4E-05
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1430962566
|
1.000 |
0.120 |
4 |
5708451 |
frameshift variant |
-/A
|
delins
|
|
7.0E-06
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1431987950
|
1.000 |
0.120 |
4 |
5625832 |
stop gained |
TCTGCTTGATTGAAA/-
|
del
|
8.0E-06
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1447633595
|
1.000 |
0.120 |
4 |
5694334 |
splice donor variant |
C/A;G;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
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 |
rs1477102573
|
1.000 |
0.120 |
4 |
5708381 |
stop gained |
G/A
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1490912913
|
1.000 |
0.120 |
4 |
5625909 |
splice acceptor variant |
C/G;T
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553811863
|
1.000 |
0.120 |
4 |
5563117 |
splice acceptor variant |
T/C
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553812417
|
1.000 |
0.120 |
4 |
5565283 |
frameshift variant |
G/TC
|
delins
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
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 |
rs1553818428
|
1.000 |
0.120 |
4 |
5584851 |
splice acceptor variant |
C/T
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553833239
|
0.925 |
0.160 |
4 |
5622993 |
splice acceptor variant |
T/C
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1553836169
|
1.000 |
0.120 |
4 |
5628735 |
splice acceptor variant |
C/T
|
snv
|
|
|
Ellis-Van Creveld Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|