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: 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: 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
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: rs4997081
rs4997081 		16 20353912 intron variant G/C snv 0.25
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
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: 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: 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: 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: rs13329952
rs13329952 		1.000 0.080 16 20355185 intron variant T/C snv 0.24
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs13329952
rs13329952 		1.000 0.080 16 20355185 intron variant T/C snv 0.24
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
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: rs201761378
rs201761378 		1.000 0.080 16 20341292 missense variant C/T snv 9.7E-04 2.4E-04
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
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: rs878855325
rs878855325 		1.000 0.120 16 20349012 protein altering variant CTTCGGGGCAGA/AGGAGGCGG delins
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 0
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