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rs2303790

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2303790(A;G)
Make rs2303790(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position56983380
GeneCETP
is asnp
is mentioned by
dbSNPrs2303790
ebirs2303790
HLIrs2303790
Exacrs2303790
Varsomers2303790
Maprs2303790
PheGenIrs2303790
hapmaprs2303790
1000 genomesrs2303790
hgdprs2303790
ensemblrs2303790
gopubmedrs2303790
geneviewrs2303790
scholarrs2303790
googlers2303790
pharmgkbrs2303790
gwascentralrs2303790
openSNPrs2303790
23andMers2303790
23andMe allrs2303790
SNP Nexus

SNPshotrs2303790
SNPdbers2303790
MSV3drs2303790
GWAS Ctlgrs2303790
GMAF0.006428
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM118470
DescCHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY
Variant0002
Relatedalso


ClinVar
Risk rs2303790(G;G)
Alt rs2303790(G;G)
Reference rs2303790(A;A)
Significance Pathogenic
Disease Hyperalphalipoproteinemia
Variation info
Gene CETP
CLNDBN Hyperalphalipoproteinemia
Reversed 0
HGVS NC_000016.9:g.57017292A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032602.23,


CETP D442G

[PMID 18560005] Association of cholesteryl ester transfer protein genotypes with CETP mass and activity, lipid levels, and coronary risk.

[PMID 19041386OA-icon.png] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

[PMID 19682379OA-icon.png] TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population.


GET Evidence
CETP-D459G
aa_change Asp459Gly
aa_change_short D459G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.000278862
summary