rs1085307068
|
1.000 |
0.160 |
1 |
170539555 |
frameshift variant |
GA/-
|
delins
|
|
|
Geroderma osteodysplastica
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs11578119
|
0.827 |
0.080 |
1 |
170532315 |
intron variant |
C/A;T
|
snv
|
8.0E-06;
0.27
|
|
Alopecia, Male Pattern
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs11578119
|
0.827 |
0.080 |
1 |
170532315 |
intron variant |
C/A;T
|
snv
|
8.0E-06;
0.27
|
|
Androgenetic Alopecia
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs11578119
|
0.827 |
0.080 |
1 |
170532315 |
intron variant |
C/A;T
|
snv
|
8.0E-06;
0.27
|
|
Alopecia, Androgenetic, 2
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs11578119
|
0.827 |
0.080 |
1 |
170532315 |
intron variant |
C/A;T
|
snv
|
8.0E-06;
0.27
|
|
Other alopecia
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs11578119
|
0.827 |
0.080 |
1 |
170532315 |
intron variant |
C/A;T
|
snv
|
8.0E-06;
0.27
|
|
Alopecia, Androgenetic, 1
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs11578119
|
0.827 |
0.080 |
1 |
170532315 |
intron variant |
C/A;T
|
snv
|
8.0E-06;
0.27
|
|
Alopecia, Androgenetic, 3
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1557999318
|
1.000 |
0.160 |
1 |
170532148 |
start lost |
GA/CT
|
mnv
|
|
|
Geroderma osteodysplastica
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs119455951
|
1.000 |
0.160 |
1 |
170539515 |
stop gained |
G/A;T
|
snv
|
1.2E-05
|
|
Geroderma osteodysplastica
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs119455952
|
1.000 |
0.160 |
1 |
170552136 |
stop gained |
C/T
|
snv
|
1.2E-05
|
|
Geroderma osteodysplastica
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs183596463
|
1.000 |
0.160 |
1 |
170544841 |
missense variant |
G/A;C;T
|
snv
|
2.4E-05
|
|
Geroderma osteodysplastica
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs749490786
|
1.000 |
0.160 |
1 |
170544832 |
missense variant |
T/C
|
snv
|
6.0E-05
|
7.0E-06
|
Geroderma osteodysplastica
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|