COL4A3, collagen type IV alpha 3 chain, 1285

N. diseases: 119; N. variants: 129
Disease: Focal glomerulosclerosis ×
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: rs188942711
rs188942711 		0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008