rs104886308, COL4A5

N. diseases: 4
Disease: Nephritis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nephritis
CUI: C0027697
Disease: Nephritis
0.010 GeneticVariation BEFREE The novel mutation reported here, COL4A5 arg1677gln, has been detected in three independently ascertained Ashkenazi-American families, causes a relatively mild form of nephritis with typical onset in the fourth or fifth decade, and may be involved in the etiology of a large proportion of adult-onset hereditary nephritis in Ashkenazi Jews. 9150741 1997