rs104886142, COL4A5

N. diseases: 10
Disease: Familial hematuria ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial hematuria
CUI: C1305904
Disease: Familial hematuria
0.010 GeneticVariation BEFREE The data support previous findings that certain mutations are associated with milder phenotypes and confirm that mutation G624D may be expressed as TBMN with familial hematuria. 21332469 2012