rs121913477
|
1.000 |
0.120 |
10 |
121515289 |
missense variant |
G/C;T
|
snv
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.810 |
1.000 |
3 |
1996 |
2008 |
rs121913478
|
0.708 |
0.640 |
10 |
121515280 |
missense variant |
T/C
|
snv
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.810 |
1.000 |
3 |
1996 |
2007 |
rs121918487
|
0.716 |
0.440 |
10 |
121517378 |
missense variant |
C/A;G;T
|
snv
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
10 |
1995 |
2016 |
rs121918491
|
0.716 |
0.440 |
10 |
121517371 |
synonymous variant |
C/T
|
snv
|
4.0E-06
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
9 |
1994 |
2015 |
rs1057519037
|
0.925 |
0.120 |
10 |
121520084 |
missense variant |
GC/AA;TA
|
mnv
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
1995 |
2014 |
rs1057519043
|
0.851 |
0.120 |
10 |
121517391 |
missense variant |
C/A;G;T
|
snv
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
1996 |
2013 |
rs1564919048
|
0.732 |
0.280 |
10 |
121520106 |
missense variant |
C/A
|
snv
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1057519044
|
0.752 |
0.440 |
10 |
121517390 |
missense variant |
C/T
|
snv
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1434545235
|
0.752 |
0.440 |
10 |
121565500 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1554927408
|
0.742 |
0.480 |
10 |
121515254 |
missense variant |
C/T
|
snv
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1554930637
|
1.000 |
0.120 |
10 |
121519997 |
inframe deletion |
AGCCCGTCGGGCCCGTATTTACTGCCGTTCTTTTCCACGTGCTTGATCCACTGGATGTGGGGC/-
|
delins
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs77543610
|
0.667 |
0.560 |
10 |
121520160 |
missense variant |
G/C
|
snv
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs79184941
|
0.617 |
0.600 |
10 |
121520163 |
missense variant |
G/A;C
|
snv
|
5.6E-05;
4.0E-06
|
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs374608214
|
0.742 |
0.160 |
10 |
121520010 |
missense variant |
G/C
|
snv
|
4.0E-06
|
7.0E-06
|
Cutis Gyrata Syndrome of Beare And Stevenson
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |