rs587777079
|
0.925 |
0.160 |
2 |
27447544 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
|
|
0.800 |
1.000 |
1 |
2013 |
2013 |
rs587777085
|
1.000 |
|
2 |
27477310 |
missense variant |
A/T
|
snv
|
|
|
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
|
|
0.800 |
1.000 |
1 |
2013 |
2013 |
rs149614625
|
1.000 |
|
2 |
27444503 |
missense variant |
A/G
|
snv
|
1.2E-05
|
4.2E-05
|
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
|
|
0.800 |
|
0 |
|
|
rs786205855
|
1.000 |
|
2 |
27446314 |
missense variant |
G/T
|
snv
|
|
|
RETINITIS PIGMENTOSA 71
|
|
0.800 |
|
0 |
|
|
rs786205856
|
1.000 |
|
2 |
27445929 |
missense variant |
A/C
|
snv
|
|
|
RETINITIS PIGMENTOSA 71
|
|
0.800 |
|
0 |
|
|
rs786205857
|
1.000 |
|
2 |
27481061 |
missense variant |
A/G
|
snv
|
|
|
RETINITIS PIGMENTOSA 71
|
|
0.800 |
|
0 |
|
|
rs1647266
|
0.925 |
0.120 |
2 |
27470618 |
intron variant |
T/C
|
snv
|
|
0.47
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs1647266
|
0.925 |
0.120 |
2 |
27470618 |
intron variant |
T/C
|
snv
|
|
0.47
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs1647276
|
0.925 |
0.120 |
2 |
27465734 |
intron variant |
C/T
|
snv
|
0.42
|
0.47
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs1647276
|
0.925 |
0.120 |
2 |
27465734 |
intron variant |
C/T
|
snv
|
0.42
|
0.47
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs4803
|
0.925 |
0.120 |
2 |
27444430 |
3 prime UTR variant |
A/G;T
|
snv
|
0.42
|
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs4803
|
0.925 |
0.120 |
2 |
27444430 |
3 prime UTR variant |
A/G;T
|
snv
|
0.42
|
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs780104
|
0.925 |
0.120 |
2 |
27454824 |
intron variant |
G/A
|
snv
|
|
0.47
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs780104
|
0.925 |
0.120 |
2 |
27454824 |
intron variant |
G/A
|
snv
|
|
0.47
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs780106
|
0.925 |
0.120 |
2 |
27458731 |
intron variant |
A/C;G;T
|
snv
|
0.42;
4.1E-06
|
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs780106
|
0.925 |
0.120 |
2 |
27458731 |
intron variant |
A/C;G;T
|
snv
|
0.42;
4.1E-06
|
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs780107
|
0.925 |
0.120 |
2 |
27461867 |
intron variant |
A/G;T
|
snv
|
0.42;
4.0E-06
|
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs780107
|
0.925 |
0.120 |
2 |
27461867 |
intron variant |
A/G;T
|
snv
|
0.42;
4.0E-06
|
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs780110
|
0.925 |
0.120 |
2 |
27462521 |
intron variant |
G/A
|
snv
|
|
0.56
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs780110
|
0.925 |
0.120 |
2 |
27462521 |
intron variant |
G/A
|
snv
|
|
0.56
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs780117
|
0.925 |
0.120 |
2 |
27475476 |
intron variant |
C/G
|
snv
|
|
0.47
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs780117
|
0.925 |
0.120 |
2 |
27475476 |
intron variant |
C/G
|
snv
|
|
0.47
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs1260345
|
0.925 |
0.120 |
2 |
27480628 |
intron variant |
A/G;T
|
snv
|
|
|
Arthritis, Gouty
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1260345
|
0.925 |
0.120 |
2 |
27480628 |
intron variant |
A/G;T
|
snv
|
|
|
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs151269177
|
|
|
2 |
27452065 |
intron variant |
ACA/-;ACAACA
|
delins
|
|
0.11
|
Serum total cholesterol measurement
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |