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: rs121917768
rs121917768 		1.000 0.240 16 20349071 missense variant C/G;T snv
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
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
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
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
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
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
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
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
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
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
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
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
dbSNP: rs1555487318
rs1555487318 		0.925 0.240 16 20348249 missense variant T/G snv
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
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: rs28934582
rs28934582 		1.000 0.240 16 20348858 missense variant C/T snv
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
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: rs28934583
rs28934583 		0.925 0.240 16 20348652 missense variant A/C;G snv
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
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: rs1555487621
rs1555487621 		0.925 0.240 16 20348943 missense variant A/C snv
CUI: C1859040
Disease: Medullary Cystic Kidney Disease Type 2
Medullary Cystic Kidney Disease Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 6 2002 2017
dbSNP: rs28934584
rs28934584 		1.000 0.120 16 20348994 missense variant C/A;G;T snv 5.3E-06
CUI: C1859040
Disease: Medullary Cystic Kidney Disease Type 2
Medullary Cystic Kidney Disease Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 6 2002 2017
dbSNP: rs121917773
rs121917773 		1.000 0.120 16 20348253 missense variant A/G snv
CUI: C1835934
Disease: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 2 2003 2006
dbSNP: rs121917769
rs121917769 		0.925 0.240 16 20348925 missense variant A/G snv
CUI: C4511620
Disease: Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease 		0.010 1.000 1 2017 2017
dbSNP: rs121917772
rs121917772 		0.882 0.240 16 20348298 missense variant A/C snv
CUI: C4020705
Disease: Glomerulocystic kidney disease
Glomerulocystic kidney disease 		0.010 1.000 1 2005 2005
dbSNP: rs12922822
rs12922822 		1.000 0.040 16 20356323 upstream gene variant C/A;T snv
CUI: C4280669
Disease: Velopharyngeal dysfunction
Velopharyngeal dysfunction 		0.700 1.000 1 2018 2018
dbSNP: rs12922822
rs12922822 		1.000 0.040 16 20356323 upstream gene variant C/A;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs12922822
rs12922822 		1.000 0.040 16 20356323 upstream gene variant C/A;T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12922822
rs12922822 		1.000 0.040 16 20356323 upstream gene variant C/A;T snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2011 2011
dbSNP: rs12922822
rs12922822 		1.000 0.040 16 20356323 upstream gene variant C/A;T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1389335358
rs1389335358 		16 20341208 missense variant A/G snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs143583842
rs143583842 		1.000 0.040 16 20341262 missense variant G/A;T snv 7.4E-04; 1.2E-05
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs143583842
rs143583842 		1.000 0.040 16 20341262 missense variant G/A;T snv 7.4E-04; 1.2E-05
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs188709583
rs188709583 		1.000 16 20337383 missense variant C/A;T snv 4.0E-06; 1.3E-04
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs188709583
rs188709583 		1.000 16 20337383 missense variant C/A;T snv 4.0E-06; 1.3E-04
CUI: C4511620
Disease: Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease 		0.010 1.000 1 2019 2019
dbSNP: rs188709583
rs188709583 		1.000 16 20337383 missense variant C/A;T snv 4.0E-06; 1.3E-04
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018