rs121907896
|
0.851 |
0.200 |
11 |
64591825 |
missense variant |
G/A
|
snv
|
1.8E-04
|
8.4E-05
|
Renal hypouricemia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.810 |
1.000 |
10 |
2004 |
2016 |
rs765990518
|
1.000 |
0.200 |
11 |
64599750 |
missense variant |
A/T
|
snv
|
1.2E-04
|
4.9E-05
|
Renal hypouricemia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
7 |
2002 |
2015 |
rs121907893
|
1.000 |
0.200 |
11 |
64593548 |
missense variant |
C/G;T
|
snv
|
4.8E-05
|
|
Renal hypouricemia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
|
0 |
|
|
rs121907894
|
1.000 |
0.200 |
11 |
64598579 |
missense variant |
G/A;T
|
snv
|
8.4E-06
|
|
Renal hypouricemia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
|
0 |
|
|
rs121907895
|
0.925 |
0.200 |
11 |
64599858 |
missense variant |
T/C;G
|
snv
|
4.0E-06;
8.1E-06
|
|
Renal hypouricemia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
|
0 |
|
|
rs121907892
|
0.807 |
0.240 |
11 |
64593747 |
stop gained |
G/A;C
|
snv
|
2.8E-04
|
|
Renal hypouricemia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.750 |
1.000 |
12 |
2002 |
2016 |
rs1047976958
|
1.000 |
0.200 |
11 |
64599701 |
missense variant |
G/A;C
|
snv
|
1.2E-05;
8.1E-06
|
|
Renal hypouricemia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
7 |
2002 |
2015 |
rs201181059
|
1.000 |
0.200 |
11 |
64592866 |
missense variant |
G/A
|
snv
|
1.0E-04
|
4.2E-05
|
Renal hypouricemia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
7 |
2002 |
2015 |
rs121907897
|
1.000 |
0.200 |
11 |
64599687 |
missense variant |
G/T
|
snv
|
|
|
Renal hypouricemia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs149722479
|
0.925 |
0.200 |
11 |
64592788 |
missense variant |
G/A;C
|
snv
|
4.8E-05;
9.6E-05
|
|
Renal hypouricemia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs773677616
|
1.000 |
0.200 |
11 |
64600770 |
missense variant |
G/A;C;T
|
snv
|
4.9E-05
|
|
Renal hypouricemia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1451506414
|
0.882 |
0.200 |
11 |
64598561 |
synonymous variant |
G/A
|
snv
|
|
|
Renal hypouricemia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.020 |
1.000 |
2 |
2008 |
2011 |
rs200104135
|
1.000 |
0.200 |
11 |
64600740 |
missense variant |
C/A;T
|
snv
|
4.1E-06;
1.2E-03
|
|
Renal hypouricemia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.020 |
1.000 |
2 |
2018 |
2018 |
rs1421770132
|
1.000 |
0.200 |
11 |
64598847 |
stop gained |
C/T
|
snv
|
8.0E-06
|
|
Renal hypouricemia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs763684449
|
0.925 |
0.200 |
11 |
64600799 |
missense variant |
C/A;T
|
snv
|
9.4E-05
|
|
Renal hypouricemia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |