{{Rsnum
|rsid=11677877
|Gene=COL4A3
|Chromosome=2
|position=227266453
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.1015
|Gene_s=COL4A3,PAPPA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 89.4 | 10.6 | 0.0
| HCB | 67.2 | 29.9 | 2.9
| JPT | 82.1 | 17.9 | 0.0
| YRI | 83.7 | 16.3 | 0.0
| ASW | 91.2 | 8.8 | 0.0
| CHB | 67.2 | 29.9 | 2.9
| CHD | 61.3 | 34.0 | 4.7
| GIH | 82.2 | 15.8 | 2.0
| LWK | 93.6 | 6.4 | 0.0
| MEX | 68.4 | 29.8 | 1.8
| MKK | 91.0 | 9.0 | 0.0
| TSI | 85.3 | 14.7 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=11677877
|allele=G
|frequency=0.033
|uid=1103658384860
|type=heterozygous_SNP
|hugo=COL4A3
|ensembl gene=ENSG00000169031
|ensembl transcript=ENST00000328380
|sift=TOLERATED
|disease=Defects in COL4A3 are a cause of autosomal recessive Alport syndrome (AS) (MIM:203780). AS is an hereditary disorder characterized by progressive glomerulonephritis, renal failure, hematuria, ocular abnormalities and deafness. The recessive form occurs equally between males and females.
}}

{{PMID Auto
|PMID=20029656
|Title=Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.
|OA=1
}}

{{GET Evidence
|gene=COL4A3
|aa_change=His451Arg
|aa_change_short=H451R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs11677877
|overall_frequency_n=706
|overall_frequency_d=9576
|overall_frequency=0.073726
|n_genomes=7
|n_genomes_annotated=0
|n_haplomes=7
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=10
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}