CETP, cholesteryl ester transfer protein, 1071

N. diseases: 188; N. variants: 88
Disease: HYPERALPHALIPOPROTEINEMIA 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2303790
rs2303790
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C3149462
Disease:
HYPERALPHALIPOPROTEINEMIA 1 		0.710 GeneticVariation UNIPROT Two novel missense mutations in the CETP gene in Japanese hyperalphalipoproteinemic subjects: high-throughput assay by Invader assay. 12091484 2002
dbSNP: rs2303790
rs2303790
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C3149462
Disease:
HYPERALPHALIPOPROTEINEMIA 1 		0.710 GeneticVariation BEFREE Two common mutations in the CETP gene, intron 14 splicing defect and exon 15 missense mutation (D442G), have been identified in Japanese HALP patients with CETP deficiency. 11111094 2000
dbSNP: rs2303790
rs2303790
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C3149462
Disease:
HYPERALPHALIPOPROTEINEMIA 1 		0.710 GeneticVariation UNIPROT A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins. 8408659 1993
dbSNP: rs2303790
rs2303790
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C3149462
Disease:
HYPERALPHALIPOPROTEINEMIA 1 		0.710 GeneticVariation UNIPROT Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation. 2215607 1990
dbSNP: rs142459781
rs142459781
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C3149462
Disease:
HYPERALPHALIPOPROTEINEMIA 1 		0.700 GeneticVariation UNIPROT Two novel missense mutations in the CETP gene in Japanese hyperalphalipoproteinemic subjects: high-throughput assay by Invader assay. 12091484 2002
dbSNP: rs142459781
rs142459781
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C3149462
Disease:
HYPERALPHALIPOPROTEINEMIA 1 		0.700 GeneticVariation UNIPROT A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins. 8408659 1993
dbSNP: rs142459781
rs142459781
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C3149462
Disease:
HYPERALPHALIPOPROTEINEMIA 1 		0.700 GeneticVariation UNIPROT Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation. 2215607 1990
dbSNP: rs1567476573
rs1567476573
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C3149462
Disease:
HYPERALPHALIPOPROTEINEMIA 1 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs5742907
rs5742907
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C3149462
Disease:
HYPERALPHALIPOPROTEINEMIA 1 		A 0.700 CausalMutation CLINVAR