COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Familial hematuria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692060
rs1131692060
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C1305904
Disease:
Familial hematuria 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs104886142
rs104886142
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
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