UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Disease: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria ×
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: 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: rs121917772
rs121917772 		0.882 0.240 16 20348298 missense variant A/C 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 0.700 0