{{Rsnum
|rsid=6436669
|Gene=COL4A3
|Chromosome=2
|position=227248459
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.191
|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 | 2.7 | 18.6 | 78.8
| HCB | 0.7 | 16.8 | 82.5
| JPT | 3.5 | 29.2 | 67.3
| YRI | 19.7 | 42.9 | 37.4
| ASW | 5.3 | 42.1 | 52.6
| CHB | 0.7 | 16.8 | 82.5
| CHD | 1.9 | 13.9 | 84.3
| GIH | 3.0 | 27.7 | 69.3
| LWK | 15.6 | 56.9 | 27.5
| MEX | 1.7 | 12.1 | 86.2
| MKK | 20.0 | 46.5 | 33.5
| TSI | 2.9 | 30.4 | 66.7
| HapMapRevision=28
}}

{{Venter SNP
|rsid=6436669
|allele=G
|frequency=0.858
|uid=1103658384830
|type=homozygous_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=Glu162Gly
|aa_change_short=E162G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6436669
|overall_frequency_n=7350
|overall_frequency_d=9502
|overall_frequency=0.773521
|n_genomes=53
|n_genomes_annotated=0
|n_haplomes=91
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=6
|autoscore=3
|n_web_uneval=3
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{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}}