{{Rsnum
|rsid=10178458
|Gene=COL4A3
|Chromosome=2
|position=227246719
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.191
|Gene_s=COL4A3,PAPPA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 77.3 | 20.0 | 2.7
| HCB | 82.0 | 17.3 | 0.8
| JPT | 67.6 | 28.8 | 3.6
| YRI | 36.1 | 43.8 | 20.1
| ASW | 52.6 | 42.1 | 5.3
| CHB | 82.0 | 17.3 | 0.8
| CHD | 83.8 | 14.3 | 1.9
| GIH | 69.0 | 29.0 | 2.0
| LWK | 28.2 | 56.4 | 15.5
| MEX | 84.5 | 13.8 | 1.7
| MKK | 33.3 | 46.4 | 20.3
| TSI | 66.7 | 30.3 | 3.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=10178458
|allele=C
|frequency=
|uid=1103658384823
|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=Leu141Pro
|aa_change_short=L141P
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10178458
|overall_frequency_n=7398
|overall_frequency_d=9556
|overall_frequency=0.774173
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=90
|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=7
|autoscore=2
|webscore=N
}}

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