Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025565
rs869025565
ECM1
C 0.700 CausalMutation CLINVAR Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1. 25529926

2015
dbSNP: rs869025565
rs869025565
ECM1
C 0.700 CausalMutation CLINVAR A failure of mucocutaneous lymphangiogenesis may underlie the clinical features of lipoid proteinosis. 17199583

2007
dbSNP: rs869025565
rs869025565
ECM1
C 0.700 CausalMutation CLINVAR The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. 17927570

2007