Rs2338104

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Orientationplus
Make rs2338104(C;C)
Make rs2338104(C;G)
Make rs2338104(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109457363
GeneKCTD10
is asnp
is mentioned by
dbSNPrs2338104
Exacrs2338104
PheGenIrs2338104
nextbiors2338104
hapmaprs2338104
1000 genomesrs2338104
hgdprs2338104
ensemblrs2338104
gopubmedrs2338104
geneviewrs2338104
scholarrs2338104
googlers2338104
pharmgkbrs2338104
gwascentralrs2338104
openSNPrs2338104
23andMers2338104
23andMe allrs2338104
SNP Nexus

SNPshotrs2338104
SNPdbers2338104
MSV3drs2338104
GMAF0.4674
Max Magnitude
? (C;C) (C;G) (G;G) 28
GWAS
SNP rs2338104
PubMedID [PMID 18193043]
Condition HDL cholesterol
Gene MVK,MMAB
Risk Allele G
pValue 3.00E-008
OR 0.48
95% CI NR) mg/dl highe


GWAS snp
PMID [PMID 19060906OA-icon.png]
Trait HDL cholesterol
Title Common variants at 30 loci contribute to polygenic dyslipidemia
Risk Allele C
P-val 1E-10
Odds Ratio 0.07 [0.03-0.11] SD decrease




[PMID 18852197OA-icon.png] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.


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


[PMID 19060910OA-icon.png] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.


[PMID 19060911OA-icon.png] Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.


[PMID 19951432OA-icon.png] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.


[PMID 20160193OA-icon.png] Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples.


[PMID 20385826OA-icon.png] Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).


GET Evidence
rs2338104
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.476562
summary