rs61735045, COL5A1

N. diseases: 3
Disease: Agenesis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Agenesis
CUI: C0000846
Disease: Agenesis
0.010 GeneticVariation BEFREE Prioritization of variants "by function" allowed the identification of multiple variants contributing to the trait, including two concomitant heterozygous variants in EDARADD (c.308C>T, p.Ser103Phe) and COL5A1 (c.1588G>A, p.Gly530Ser), specifically associated with a more severe phenotype (i.e. canine agenesis). 29705498 2018