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rs183130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) lower HDL cholesterol
(C;T) lower HDL cholesterol
(T;T) normal risk
ReferenceGRCh38 38.1/141
Chromosome16
Position56957451
GeneCETP
is asnp
is mentioned by
dbSNPrs183130
ebirs183130
HLIrs183130
Exacrs183130
Varsomers183130
Maprs183130
PheGenIrs183130
hapmaprs183130
1000 genomesrs183130
hgdprs183130
ensemblrs183130
gopubmedrs183130
geneviewrs183130
scholarrs183130
googlers183130
pharmgkbrs183130
gwascentralrs183130
openSNPrs183130
23andMers183130
23andMe allrs183130
SNP Nexus

SNPshotrs183130
SNPdbers183130
MSV3drs183130
GWAS Ctlgrs183130
GMAF0.2502
Max Magnitude
The (C) allele of rs183130 was associated with risk for lower high-density lipoprotein (HDL) cholesterol plasma levels in 3 independent population samples, including both Caucasians and African-Americans.[PMID 17952847OA-icon.png]
OMIM118470
DescCHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP
Variant
Relatedalso


OMIM118470
Desc
Variant0005
Relatedalso


GET Evidence
rs183130
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.289062
summary



ClinVar
Risk rs183130(T;T)
Alt rs183130(T;T)
Reference rs183130(C;C)
Significance Other
Disease High density lipoprotein cholesterol level quantitative trait locus 10
Variation info
Gene
CLNDBN High density lipoprotein cholesterol level quantitative trait locus 10
Reversed 0
HGVS NC_000016.9:g.56991363C\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000019078.2,