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: 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
dbSNP: rs12917707
rs12917707 		0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12917707
rs12917707 		0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs13333226
rs13333226 		0.827 0.200 16 20354332 intron variant A/G snv 0.23
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs13333226
rs13333226 		0.827 0.200 16 20354332 intron variant A/G snv 0.23
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs13333226
rs13333226 		0.827 0.200 16 20354332 intron variant A/G snv 0.23
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
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: rs183962941
rs183962941 		0.925 0.080 16 20343125 intron variant G/A snv 1.1E-02
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs183962941
rs183962941 		0.925 0.080 16 20343125 intron variant G/A snv 1.1E-02
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
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: rs199633513
rs199633513 		16 20337370 missense variant C/T snv 4.0E-05 2.8E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs28934583
rs28934583 		0.925 0.240 16 20348652 missense variant A/C;G snv
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs4293393
rs4293393 		0.827 0.200 16 20353266 intron variant A/G snv 0.20
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4293393
rs4293393 		0.827 0.200 16 20353266 intron variant A/G snv 0.20
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4293393
rs4293393 		0.827 0.200 16 20353266 intron variant A/G snv 0.20
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4293393
rs4293393 		0.827 0.200 16 20353266 intron variant A/G snv 0.20
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4293393
rs4293393 		0.827 0.200 16 20353266 intron variant A/G snv 0.20
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4293393
rs4293393 		0.827 0.200 16 20353266 intron variant A/G snv 0.20
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs759481702
rs759481702 		16 20348885 missense variant G/A;C;T snv 3.8E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs768597701
rs768597701 		1.000 16 20349795 missense variant C/T snv 5.4E-05
CUI: C4511620
Disease: Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease 		0.010 1.000 1 2018 2018
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: 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