Disease: Familial hypercholesterolemia - homozygous ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs564427867
rs564427867
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing. 25962062 2015
dbSNP: rs564427867
rs564427867
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		A 0.700 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: rs564427867
rs564427867
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR Clinical significance of measuring soluble LR11, a circulating marker of atherosclerosis and HbA1c in familial hypercholesterolemia. 24859021 2014
dbSNP: rs564427867
rs564427867
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan. 21146822 2011
dbSNP: rs564427867
rs564427867
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation. 20006333 2010
dbSNP: rs564427867
rs564427867
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
CUI: C0342881
Disease:
Familial hypercholesterolemia - homozygous 		A 0.700 CausalMutation CLINVAR Genetic variants in PCSK9 in the Japanese population: rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population. 17316651 2008