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: 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: 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: 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: 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: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
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: 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: rs1555487318
rs1555487318 		0.925 0.240 16 20348249 missense variant T/G 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 0
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: rs886043751
rs886043751 		0.925 0.240 16 20348557 stop gained G/C;T 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 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
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: 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: 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: 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: rs4293393
rs4293393 		0.827 0.200 16 20353266 intron variant A/G snv 0.20
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2010 2010
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: 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: 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: rs1555487316
rs1555487316 		0.882 0.240 16 20348247 missense variant A/C snv
CUI: C1408258
Disease: Kidney damage
Kidney damage 		0.700 0
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: 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: 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