COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Renal Insufficiency ×
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: rs1569492161
rs1569492161 		0.882 0.280 X 108586729 missense variant G/C snv
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs281874657
rs281874657 		0.925 0.160 X 108586717 stop gained C/T snv
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017