{{Rsnum
|rsid=6922269
|Gene=MTHFD1L
|Chromosome=6
|position=150931849
|Orientation=plus
|GMAF=0.2906
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MTHFD1L
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 8.3 | 37.0 | 54.6
| HCB | 0.0 | 4.4 | 95.6
| JPT | 0.0 | 2.2 | 97.8
| YRI | 45.5 | 42.1 | 12.4
| ASW | 35.1 | 43.9 | 21.1
| CHB | 0.0 | 4.4 | 95.6
| CHD | 0.0 | 0.0 | 0.0
| GIH | 6.1 | 42.9 | 51.0
| LWK | 36.7 | 47.7 | 15.6
| MEX | 10.5 | 42.1 | 47.4
| MKK | 0.0 | 0.0 | 0.0
| TSI | 11.0 | 33.0 | 56.0
| HapMapRevision=28
}}[[rs6922269]] has been reported in a large study to be associated with [[heart disease]], in particular, [[coronary artery disease]].

The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.17 (CI 1.04-1.32), and for homozygotes, 1.65 (CI 1.32-2.06). {{PMID|17554300|OA=1
}}

{{GWAS Summary
|SNP=rs6922269
|PubMedID=17634449
|Condition=Coronary disease
|Gene=MTHFD1L
|Risk Allele=A
|pValue=3.00E-008
|OR=1.23
|95CI=1.15-1.33
|OA=1
}}

{{PMID Auto
|PMID=19164808
|Title=Large scale association analysis of novel genetic loci for coronary artery disease
|OA=1
}}

{{PMID Auto
|PMID=18675980
|Title=Novel genetic variants linked to coronary artery disease by genome-wide association are not associated with carotid artery intima-media thickness or intermediate risk phenotypes
|OA=1
}}

{{PharmGKB
|RSID=rs6922269
|Name_s=
|Gene_s=MTHFD1L
|Feature=
|Evidence=PubMed ID:17634449; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Genomewide association analysis of coronary artery disease (Initial Sample Size: 1,926 cases, 2,938 controls; Replication Sample Size: 875 cases, 1,644 controls; Risk Allele: rs6922269-A).
|Drugs=
|Drug Classes=
|Diseases=Coronary Disease
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356675
}}

{{PMID Auto
|PMID=19373437
|Title=Association of three polymorphisms selected from a genome-wide association study with coronary heart disease in the Tunisian population
}}

{{PMID Auto
|PMID=21463265
|Title=Association of SNP rs17465637 on Chromosome 1q41 and rs599839 on 1p13.3 with Myocardial Infarction in an American Caucasian Population
|OA=1
}}

{{PMID Auto
|PMID=22216278
|Title=Large Scale Association Analysis Identifies Three Susceptibility Loci for Coronary Artery Disease
|OA=1
}}

{{PMID Auto
|PMID=18780302
|Title=Association studies of 22 candidate SNPs with late-onset Alzheimer's disease.
|OA=1
}}

{{PMID Auto
|PMID=18852197
|Title=Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.
|OA=1
}}

{{PMID Auto
|PMID=18979498
|Title=The impact of newly identified loci on coronary heart disease, stroke and total mortality in the MORGAM prospective cohorts.
|OA=1
}}

{{PMID Auto
|PMID=19135198
|Title=Evaluation of the association of genetic variants on the chromosomal loci 9p21.3, 6q25.1, and 2q36.3 with angiographically characterized coronary artery disease.
}}

{{PMID Auto
|PMID=19198609
|Title=Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
|OA=1
}}

{{PMID Auto
|PMID=19336475
|Title=Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
|OA=1
}}

{{PMID Auto
|PMID=19750184
|Title=Genome-wide association studies for atherosclerotic vascular disease and its risk factors.
|OA=1
}}

{{PMID Auto
|PMID=19956433
|Title=Genetics of coronary artery disease: focus on genome-wide association studies.
|OA=1
}}

{{PMID Auto
|PMID=20017983
|Title=Evaluation of population impact of candidate polymorphisms for coronary heart disease in the Framingham Heart Study Offspring Cohort.
|OA=1
}}

{{PMID Auto
|PMID=21804106
|Title=Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration.
|OA=1
}}

{{PMID Auto
|PMID=22042884
|Title=Association of genetic variants and incident coronary heart disease in multiethnic cohorts: the PAGE study.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6922269
|overall_frequency_n=36
|overall_frequency_d=126
|overall_frequency=0.285714
|n_genomes=24
|n_genomes_annotated=0
|n_haplomes=32
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}