rs2853578, ABCA1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tangier Disease
CUI: C0039292
Disease: Tangier Disease
0.810 GeneticVariation BEFREE Previously, we showed that an ABCA1 Q597R mutant (QR) identified in TD is retained in the endoplasmic reticulum. 18343215 2008
Tangier Disease
CUI: C0039292
Disease: Tangier Disease
0.810 GeneticVariation UNIPROT
Tangier Disease
CUI: C0039292
Disease: Tangier Disease
0.810 CausalMutation CLINVAR