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: rs12917707
rs12917707 		0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.720 1.000 5 2009 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: 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: rs12917707
rs12917707 		0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.800 1.000 2 2013 2016
dbSNP: rs12917707
rs12917707 		0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 2 2010 2016
dbSNP: rs12917707
rs12917707 		0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2012 2014
dbSNP: rs12917707
rs12917707 		0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2017 2018
dbSNP: rs13329952
rs13329952 		1.000 0.080 16 20355185 intron variant T/C snv 0.24
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2016 2019
dbSNP: rs13333226
rs13333226 		0.827 0.200 16 20354332 intron variant A/G snv 0.23
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.710 1.000 2 2011 2018
dbSNP: rs13333226
rs13333226 		0.827 0.200 16 20354332 intron variant A/G snv 0.23
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.810 1.000 2 2010 2016
dbSNP: rs13333226
rs13333226 		0.827 0.200 16 20354332 intron variant A/G snv 0.23
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.710 1.000 2 2011 2018
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: 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