Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909116
rs121909116
ECM1
0.800 GeneticVariation UNIPROT Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. 12603844

2003
dbSNP: rs121909116
rs121909116
ECM1
0.800 GeneticVariation UNIPROT Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). 11929856

2002
dbSNP: rs121909116
rs121909116
ECM1
A 0.800 CausalMutation CLINVAR