{{Rsnum
|rsid=3742207
|Gene=COL4A1
|Chromosome=13
|position=110166251
|Orientation=minus
|GMAF=0.2925
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=COL4A1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 46.9 | 41.6 | 11.5
| HCB | 54.7 | 39.4 | 5.8
| JPT | 54.0 | 39.8 | 6.2
| YRI | 53.1 | 40.8 | 6.1
| ASW | 49.1 | 43.6 | 7.3
| CHB | 54.7 | 39.4 | 5.8
| CHD | 56.0 | 39.4 | 4.6
| GIH | 42.6 | 48.5 | 8.9
| LWK | 52.8 | 38.0 | 9.3
| MEX | 75.9 | 22.4 | 1.7
| MKK | 47.4 | 41.7 | 10.9
| TSI | 36.3 | 41.2 | 22.5
| HapMapRevision=28
}}{{PharmGKB
|RSID=rs3742207
|Name_s=
|Gene_s=COL4A1
|Feature=
|Evidence=PubMed ID:20031579
|Annotation=This SNP was identified in a GWAS performed for 4221 Sardinian individuals as being significantly associated with Carotid-femoral pulse wave velocity, which is a measure of arterial stiffness. The association was replicated in a second Sardinian cohort (1857 subjects) and then in a cohort of 813 Old-Order Amish of Lancaster, PA. Risk or phenotype-associated allele: C allele. Phenotype: increased Pulse Wave Velocity. Significance metric(s): P value: overall p = 5.16 x 10(-8). Type of association: CO; GN.
|Drugs=
|Drug Classes=
|Diseases=Cardiovascular Diseases
|Curation Level=Curated
|PharmGKB Accession ID=PA165111684
}}

{{PMID Auto GWAS
|PMID=20031579
|Trait=Arterial stiffness
|Title=COL4A1 Is Associated With Arterial Stiffness by Genome-Wide Association Scan
|RiskAllele=C
|Pval=5E-8
|OR=21.00
|ORtxt=[11.79-30.21] cm/s increase
|OA=1
}}

{{PharmGKB
|RSID=rs3742207
|Name_s=Gln1334His
|Gene_s=COL4A1
|Feature=
|Evidence=PubMed ID:18077766
|Annotation=This variant is significantly associated with myocardial infarction in Japanese population.
|Drugs=
|Drug Classes=
|Diseases=Myocardial Infarction
|Curation Level=Curated
|PharmGKB Accession ID=PA162181156
}}

{{PMID|19679263|OA=1
}} Using new tools to define the genetic underpinnings of risky traits associated with coronary artery disease: the SardiNIA study.

{{GET Evidence
|gene=COL4A1
|aa_change=Gln1334His
|aa_change_short=Q1334H
|impact=pathogenic
|qualified_impact=Low clinical importance, Likely pathogenic
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs3742207
|overall_frequency_n=3493
|overall_frequency_d=10758
|overall_frequency=0.324689
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=31
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=4
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_gwas=Y
|in_pharmgkb=Y
|pph2_score=0.16
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=4
|webscore=N
|n_web_uneval=7
|variant_evidence=0
|clinical_importance=1
|summary_short=This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}