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: 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: 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: 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: 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: rs794728683
rs794728683
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C1863551
Disease:
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		A 0.800 CausalMutation CLINVAR