rs121917768
|
1.000 |
0.240 |
16 |
20349071 |
missense variant |
C/G;T
|
snv
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.800 |
1.000 |
14 |
2002 |
2015 |
rs121917770
|
1.000 |
0.240 |
16 |
20348918 |
missense variant |
T/C
|
snv
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.800 |
1.000 |
14 |
2002 |
2015 |
rs121917771
|
1.000 |
0.240 |
16 |
20348537 |
missense variant |
C/T
|
snv
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.800 |
1.000 |
14 |
2002 |
2015 |
rs1447458978
|
1.000 |
0.240 |
16 |
20348594 |
missense variant |
G/A
|
snv
|
4.8E-06
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
1.000 |
14 |
2002 |
2015 |
rs28934582
|
1.000 |
0.240 |
16 |
20348858 |
missense variant |
C/T
|
snv
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.800 |
1.000 |
14 |
2002 |
2015 |
rs1060499657
|
1.000 |
0.240 |
16 |
20348714 |
missense variant |
T/C
|
snv
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs121917774
|
1.000 |
0.240 |
16 |
20348484 |
missense variant |
C/A
|
snv
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555486021
|
1.000 |
0.240 |
16 |
20341205 |
missense variant |
C/T
|
snv
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555487528
|
1.000 |
0.240 |
16 |
20348746 |
inframe deletion |
GCGCCAGTACTCGTCCAGGGTGCGGTG/-
|
del
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs398122388
|
1.000 |
0.240 |
16 |
20348558 |
missense variant |
C/G
|
snv
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs780462125
|
1.000 |
0.240 |
16 |
20348975 |
missense variant |
A/T
|
snv
|
1.1E-05
|
2.1E-05
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs121917769
|
0.925 |
0.240 |
16 |
20348925 |
missense variant |
A/G
|
snv
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.800 |
1.000 |
14 |
2002 |
2015 |
rs1555487318
|
0.925 |
0.240 |
16 |
20348249 |
missense variant |
T/G
|
snv
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.800 |
1.000 |
14 |
2002 |
2015 |
rs28934583
|
0.925 |
0.240 |
16 |
20348652 |
missense variant |
A/C;G
|
snv
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.800 |
1.000 |
14 |
2002 |
2015 |
rs886043751
|
0.925 |
0.240 |
16 |
20348557 |
stop gained |
G/C;T
|
snv
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.710 |
1.000 |
1 |
2007 |
2007 |
rs1555487621
|
0.925 |
0.240 |
16 |
20348943 |
missense variant |
A/C
|
snv
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs121917772
|
0.882 |
0.240 |
16 |
20348298 |
missense variant |
A/C
|
snv
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.800 |
1.000 |
14 |
2002 |
2015 |
rs1555487316
|
0.882 |
0.240 |
16 |
20348247 |
missense variant |
A/C
|
snv
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|