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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs12917707
rs12917707 		0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.700 1.000 1 2016 2016
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: 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: rs12917707
rs12917707 		0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2016 2016
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: 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: rs13333226
rs13333226 		0.827 0.200 16 20354332 intron variant A/G snv 0.23
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System 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: 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: 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: rs13333226
rs13333226 		0.827 0.200 16 20354332 intron variant A/G snv 0.23
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs13333226
rs13333226 		0.827 0.200 16 20354332 intron variant A/G snv 0.23
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.700 0
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