UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060499657
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
dbSNP: rs121917772
rs121917772
0.882 0.240 16 20348298 missense variant A/C snv
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121917774
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
dbSNP: rs13333226
rs13333226
0.827 0.200 16 20354332 intron variant A/G snv 0.23
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
Cardiovascular Diseases 0.700 0
dbSNP: rs1555486021
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
dbSNP: rs1555487316
rs1555487316
0.882 0.240 16 20348247 missense variant A/C snv
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy
0.700 0
dbSNP: rs1555487316
rs1555487316
0.882 0.240 16 20348247 missense variant A/C snv
CUI: C1408258
Disease: Kidney damage
Kidney damage
0.700 0
dbSNP: rs1555487316
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
dbSNP: rs1555487316
rs1555487316
0.882 0.240 16 20348247 missense variant A/C snv
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555487316
rs1555487316
0.882 0.240 16 20348247 missense variant A/C snv
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555487318
rs1555487318
0.925 0.240 16 20348249 missense variant T/G snv
Medullary Cystic Kidney Disease Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555487528
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
dbSNP: rs1555487621
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
dbSNP: rs398122388
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
dbSNP: rs780462125
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
dbSNP: rs878855325
rs878855325
1.000 0.120 16 20349012 protein altering variant CTTCGGGGCAGA/AGGAGGCGG delins
Medullary Cystic Kidney Disease Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs886043751
rs886043751
0.925 0.240 16 20348557 stop gained G/C;T snv
Medullary Cystic Kidney Disease Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs12917707
rs12917707
0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs12917707
rs12917707
0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.730 0.800 5 2010 2018
dbSNP: rs121917768
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
dbSNP: rs121917769
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
dbSNP: rs121917770
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
dbSNP: rs121917771
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
dbSNP: rs121917772
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
dbSNP: rs1447458978
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