COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Chronic kidney disease stage 5 ×
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: rs281874762
rs281874762 		0.882 0.160 X 108578114 stop gained G/A;T snv 5.5E-06
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 2012 2012
dbSNP: rs281874682
rs281874682 		0.925 0.080 X 108598805 missense variant C/A;T snv 5.5E-06
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 2012 2012