COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Proteinuria ×
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: rs1556411578
rs1556411578 		X 108595507 coding sequence variant AAGGTGACA/- delins
CUI: C0033687
Disease: Proteinuria
Proteinuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1556445736
rs1556445736 		0.925 0.200 X 108667167 synonymous variant A/G snv
CUI: C0033687
Disease: Proteinuria
Proteinuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1556463583
rs1556463583 		X 108695350 frameshift variant -/A delins
CUI: C0033687
Disease: Proteinuria
Proteinuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs281874674
rs281874674 		0.827 0.280 X 108597479 missense variant G/C;T snv
CUI: C0033687
Disease: Proteinuria
Proteinuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0