Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879254753
rs879254753
LDLR
0.010 GeneticVariation BEFREE One was a novel mutation, FH Wakayama (Cys-->Ser at 317), derived from his mother, and the other was a recurrent mutation, FH Niigata (T-->C at 1845 + 2, 5' splice signal in intron 12), derived from his father. 8568489

1996