Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879254920
rs879254920
LDLR ; MIR6886
C 0.720 GeneticVariation CLINVAR Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project. 20236128

2010
dbSNP: rs879254920
rs879254920
LDLR ; MIR6886
0.720 GeneticVariation BEFREE Only two of them, including the Alanine to Threonine change at position 370 (A370T), have been discovered in FH patients but do not cause FH. 17044844

2006
dbSNP: rs879254920
rs879254920
LDLR ; MIR6886
0.720 GeneticVariation BEFREE The A370T mutation represents the third single-amino acid change of the LDL receptor protein reported so far, which, in a heterozygous state, is not associated with the clinical phenotype of familial hypercholesterolemia. 9512963

1998