COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Microscopic hematuria ×
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: rs1556446493
rs1556446493 		X 108668328 missense variant G/T snv
CUI: C0239937
Disease: Microscopic hematuria
Microscopic hematuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1569492161
rs1569492161 		0.882 0.280 X 108586729 missense variant G/C snv
CUI: C0239937
Disease: Microscopic hematuria
Microscopic hematuria 		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: C0239937
Disease: Microscopic hematuria
Microscopic hematuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0