rs374603772, PCSK9

N. diseases: 9
Disease: Familial hypobetalipoproteinemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial hypobetalipoproteinemia
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
0.010 GeneticVariation BEFREE Only a single amino acid substitution (R463W) has been reported as the cause of FHBL. 17570373 2007