COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Chronic kidney disease stage 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281874762
rs281874762
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C2316810
Disease:
Chronic kidney disease stage 5 		0.010 GeneticVariation BEFREE Two males with nonsense mutation E228X reached ESRD by ages 14 and 18. 21332469 2012