Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs875989900
rs875989900
LDLR
C 0.700 GeneticVariation CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240

2017
dbSNP: rs875989900
rs875989900
LDLR
C 0.700 GeneticVariation CLINVAR Clinical features of bilateral temporal bone xanthoma with LDLR gene mutation. 25921077

2015
dbSNP: rs875989900
rs875989900
LDLR
C 0.700 GeneticVariation CLINVAR Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene. 12730724

2003
dbSNP: rs875989900
rs875989900
LDLR
C 0.700 GeneticVariation CLINVAR Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia. 11462246

2001
dbSNP: rs875989900
rs875989900
LDLR
C 0.700 GeneticVariation CLINVAR Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. 10735632

2000