Rs7412

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Geno Mag Summary
(C;C) 0 more likely to gain weight if taking olanzapine
(C;T) more likely to gain weight if taking olanzapine
(T;T) normal
ReferenceGRCh38 38.1/141
Chromosome19
Position44908822
GeneAPOE
is asnp
is mentioned by
dbSNPrs7412
Exacrs7412
PheGenIrs7412
nextbiors7412
hapmaprs7412
1000 genomesrs7412
hgdprs7412
ensemblrs7412
gopubmedrs7412
geneviewrs7412
scholarrs7412
googlers7412
pharmgkbrs7412
gwascentralrs7412
openSNPrs7412
23andMers7412
23andMe allrs7412
SNP Nexus

SNPshotrs7412
SNPdbers7412
MSV3drs7412
GMAF0.07392
? (C;C) (C;T) (T;T) 28
The ancestral allele is C. The rs7412(T) allele, also known as Arg176Cys, generally indicates the presence of an Apoε2 allele; see the ApoE page for a full discussion of the ApoE alleles and their association with Alzheimer's disease.

Another SNP related to ApoE is rs429358.

In a study of 67 mostly Caucasian patients prescribed the atypical antipsychotic olanzapine, carriers of a rs7412(C) allele were more likely to gain significant weight compared to rs7412(T;T) carriers, as assessed by physiogenomic analysis of corresponding weight profiles. Two other SNPs, rs5092 and rs4765623, were also significantly associated with weight profiles in these patients.[PMID 17199131]

OMIM107741
DescAPOE2 ISOFORMS
Variant0001
Relatedalso
OMIM107741
DescHYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2-FUKUOKA
Variant0019
Relatedalso
Neighborrs769455
Distance39
Neighborrs28931579
Distance414
OMIM601367
DescSTROKE, ISCHEMIC
Variant
Relatedalso
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GWAS snp
PMID [PMID 22331829]
Trait
Title Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.
Risk Allele
P-val 2E-47
Odds Ratio 6.2000 None
GWAS snp
PMID [PMID 22286219OA-icon.png]
Trait
Title Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
Risk Allele
P-val 3E-58
Odds Ratio 0.7500 None


ClinVar
Risk rs7412(T;T)
Alt rs7412(T;T)
Reference rs7412(C;C)
Significance Pathogenic
Disease APOE2 ISOFORMS Familial type 3 hyperlipoproteinemia Apolipoproteinemia E1
Variation info
Gene APOE
CLNDBN APOE2 ISOFORMS Familial type 3 hyperlipoproteinemia Apolipoproteinemia E1
Reversed 0
HGVS NC_000019.9:g.45412079C>T
CLNSRC GTR OMIM Allelic Variant
CLNACC RCV000019427.26, RCV000019428.26, RCV000019439.26, RCV000019452.27, RCV000019454.26,



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GET Evidence
APOE-R176C
aa_change Arg176Cys
aa_change_short R176C
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.0678997
summary This is generally known as the ApoE2 variant of ApoE and is associated with a decreased risk of Alzheimer's disease.



GWAS snp
PMID [PMID 23067351OA-icon.png]
Trait LDL cholesterol
Title High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE.
Risk Allele
P-val 2E-9
Odds Ratio 12.30 [8.4-16.3] mg/dL decrease


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[PMID 22710912] TOMM40, APOE, and APOC1 in primary progressive aphasia and frontotemporal dementia.


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[PMID 22898894] Pleiotropy and allelic heterogeneity in the TOMM40-APOE genomic region related to clinical and metabolic features of hepatitis C infection.


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GWAS snp
PMID [PMID 24023260]
Trait Lipid traits
Title Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
Risk Allele T
P-val 3E-53
Odds Ratio .48 [0.42-0.54] unit decrease