COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Nephritis ×
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: rs1556445736
rs1556445736 		0.925 0.200 X 108667167 synonymous variant A/G snv
CUI: C0027697
Disease: Nephritis
Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs104886308
rs104886308 		0.851 0.160 X 108696350 missense variant G/A;C;T snv 2.2E-05
CUI: C0027697
Disease: Nephritis
Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 1997 1997