Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942112
rs28942112
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs374603772
rs374603772
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		T 0.800 CausalMutation CLINVAR Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia. 27206942 2017
dbSNP: rs374603772
rs374603772
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		T 0.800 CausalMutation CLINVAR PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia. 28777095 2017
dbSNP: rs794728683
rs794728683
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs794728683
rs794728683
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		A 0.800 GeneticVariation CLINVAR Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations. 27896130 2016
dbSNP: rs28942112
rs28942112
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs374603772
rs374603772
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		T 0.800 CausalMutation CLINVAR Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody. 26374825 2015
dbSNP: rs794728683
rs794728683
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs137852912
rs137852912
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9. 24808179 2014
dbSNP: rs28942111
rs28942111
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9. 24808179 2014
dbSNP: rs28942112
rs28942112
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9. 24808179 2014
dbSNP: rs28942112
rs28942112
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs374603772
rs374603772
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		T 0.800 CausalMutation CLINVAR Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. 23375686 2013
dbSNP: rs794728683
rs794728683
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs374603772
rs374603772
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		T 0.800 CausalMutation CLINVAR Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells. 19081568 2009
dbSNP: rs137852912
rs137852912
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT Annexin A2 is a C-terminal PCSK9-binding protein that regulates endogenous low density lipoprotein receptor levels. 18799458 2008
dbSNP: rs28942111
rs28942111
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT Annexin A2 is a C-terminal PCSK9-binding protein that regulates endogenous low density lipoprotein receptor levels. 18799458 2008
dbSNP: rs28942112
rs28942112
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT Annexin A2 is a C-terminal PCSK9-binding protein that regulates endogenous low density lipoprotein receptor levels. 18799458 2008
dbSNP: rs794728683
rs794728683
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		A 0.800 GeneticVariation CLINVAR Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion. 18631360 2008
dbSNP: rs794728683
rs794728683
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		A 0.800 GeneticVariation CLINVAR Characterization of novel mutations in the catalytic domain of the PCSK9 gene. 18266662 2008
dbSNP: rs374603772
rs374603772
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		T 0.800 CausalMutation CLINVAR Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia. 16183066 2006
dbSNP: rs137852912
rs137852912
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. 12730697 2003
dbSNP: rs28942111
rs28942111
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. 12730697 2003
dbSNP: rs28942112
rs28942112
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. 12730697 2003
dbSNP: rs137852912
rs137852912
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		T 0.800 CausalMutation CLINVAR