{{Rsnum
|rsid=157580
|Gene=TOMM40
|Chromosome=19
|position=44892009
|Orientation=plus
|GMAF=0.371
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=TOMM40
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 39.8 | 46.0 | 14.2
| HCB | 16.8 | 56.2 | 27.0
| JPT | 24.8 | 44.2 | 31.0
| YRI | 81.0 | 17.0 | 2.0
| ASW | 66.7 | 33.3 | 0.0
| CHB | 16.8 | 56.2 | 27.0
| CHD | 26.6 | 41.3 | 32.1
| GIH | 33.7 | 42.6 | 23.8
| LWK | 67.3 | 30.0 | 2.7
| MEX | 39.7 | 51.7 | 8.6
| MKK | 50.6 | 39.7 | 9.6
| TSI | 33.3 | 56.9 | 9.8
| HapMapRevision=28
}}{{PMID Auto GWAS
|PMID=19125160
|Trait=Alzheimer's disease
|Title=Examination of the current top candidate genes for AD in a genome-wide association study
|RiskAllele=
|Pval=1E-40
|OR=NR
|ORtxt=NR
}}
{{PMID Auto GWAS
|PMID=19060911
|Trait=HDL cholesterol
|Title=Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
|RiskAllele=G
|Pval=4E-7
|OR=0.06
|ORtxt=[NR] SD increase
|OA=1
}}
{{PMID Auto GWAS
|PMID=19060910
|Trait=LDL cholesterol
|Title=Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
|RiskAllele=G
|Pval=5E-8
|OR=0.11
|ORtxt=[0.07-0.15] mmol/l decrease
|OA=1
}}

{{PharmGKB
|RSID=rs157580
|Name_s=
|Gene_s=TOMM40
|Feature=
|Evidence=PubMed ID:19060911; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (Initial Sample Size: 17,797 individuals; Replication Sample Size: NR); (Region: 19q13.32; Reported Gene(s): TOMM40, APOE; Risk Allele: rs157580-G); (p-value= 2E-19).This variant is associated with LDL cholesterol.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740215
}}

The G allele of this SNP in the [[TOMM40]] gene may be associated with late-onset [[Alzheimer's disease]].

{{PharmGKB
|RSID=rs157580
|Name_s=
|Gene_s=TOMM40
|Feature=
|Evidence=PubMed ID:19125160; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Examination of the current top candidate genes for AD in a genome-wide association study. (Initial Sample Size: 491 cases, 479 controls; Replication Sample Size: NR); (Region: 19q13.32; Reported Gene(s): TOMM40, APOE; Risk Allele: rs157580-?); (p-value= 1E-40).This variant is associated with Alzheimer's disease.
|Drugs=
|Drug Classes=
|Diseases=Alzheimer Disease
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740075
}}

{{PharmGKB
|RSID=rs157580
|Name_s=
|Gene_s=TOMM40
|Feature=
|Evidence=PubMed ID:19060910; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. (Initial Sample Size: 4,763 individuals; Replication Sample Size: NR); (Region: 19q13.32; Reported Gene(s): APO cluster; Risk Allele: rs157580-G); (p-value= 0.00000005).This variant is associated with LDL cholesterol.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740277
}}

{{PharmGKB
|RSID=rs157580
|Name_s=
|Gene_s=TOMM40
|Feature=
|Evidence=PubMed ID:19060911; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (Initial Sample Size: 21,412 individuals; Replication Sample Size: NR); (Region: 19q13.32; Reported Gene(s): TOMM40, APOE; Risk Allele: rs157580-G); (p-value= 0.0000004).This variant is associated with HDL cholesterol.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740208
}}

{{PMID Auto GWAS
|PMID=21123754
|Trait=None
|Title=Genome-wide association study of CSF biomarkers A{beta}1-42, t-tau, and p-tau181p in the ADNI cohort.
|RiskAllele=
|Pval=0.000001
|OR=None
|ORtxt=None
|OA=1
}}

{{PMID Auto GWAS
|PMID=21627779
|Trait=None
|Title=The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.
|RiskAllele=
|Pval=8E-89
|OR=1.6900
|ORtxt=[NR]
|OA=1
}}

{{PMID|17658295}} Association of ApoE genetic variants with obstructive sleep apnea in children.

{{PMID|18439548|OA=1
}} Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.

{{PMID|18823527|OA=1
}} A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.

{{PMID|19668339|OA=1
}} Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.

{{PMID|19734902|OA=1
}} Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.

{{PMID|19951432|OA=1
}} Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.

{{PMID|20061627|OA=1
}} Genome-wide scan of copy number variation in late-onset Alzheimer's disease.

{{PMID|20502693|OA=1
}} Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.

{{PMID|21390209|OA=1
}} Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer's disease.

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs157580
|overall_frequency_n=91
|overall_frequency_d=126
|overall_frequency=0.722222
|n_genomes=47
|n_genomes_annotated=0
|n_haplomes=78
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23435269
|Title=Chronic Family Stress Moderates the Association between a TOMM40 Variant and Triglyceride Levels in Two Independent Caucasian Samples
|OA=1
}}

{{PMID Auto
|PMID=23288655
|Title=Association of TOMM40 polymorphisms with late-onset Alzheimer's disease in a Northern Han Chinese population
}}

{{PMID Auto
|PMID=22430674
|Title=Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease.
|OA=1
}}

{{PMID Auto
|PMID=23193196
|Title=Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis.
|OA=1
}}

{{PMID Auto
|PMID=23546992
|Title=TOMM40 polymorphisms in Italian Alzheimer's disease and frontotemporal dementia patients.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}