COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Hereditary 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: rs104886308
rs104886308 		0.851 0.160 X 108696350 missense variant G/A;C;T snv 2.2E-05
CUI: C0027706
Disease: Hereditary nephritis
Hereditary nephritis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.010 1.000 1 1997 1997