{{Rsnum
|rsid=3793784
|Gene=ERCC6
|Chromosome=10
|position=49539493
|Orientation=minus
|GMAF=0.2723
|Gene_s=ERCC6,ERCC6-PGBD3
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 40.6 | 43.8 | 15.6
| HCB | 50.0 | 38.6 | 11.4
| JPT | 50.0 | 36.4 | 13.6
| YRI | 98.4 | 1.6 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 50.0 | 38.6 | 11.4
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}[[rs3793784]], a SNP upstream of the [[ERCC6]] DNA repair gene, has been linked independently and in conjunction with another SNP ([[rs380390]]) to [[age related macular degeneration]]. On it's own, the odds ratios for increased risk for heterozygotes and homozygotes, were, respectively, 1.51 (CI 1.07-2.11) and 1.60 (CI 0.99-2.61). {{PMID|16754848|OA=1
}}

In dbSNP orientation, individuals who are [[CFH]] gene SNP genotype [[rs380390(C;C)]] and are also [[rs3793784(G;G)]] for this ([[ERCC6]]) SNP are calculated to be at 23 fold higher risk for developing [[age related macular degeneration]] compared to individuals who are homozygous for the more common alleles (among Caucasians) at both loci (ie who are [[rs380390(G;G)]] and [[rs3793784(C;C]]).{{PMID|16754848|OA=1
}}

{{omim
|id=609413
|desc=EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
|rsnum=3793784
}}

{{PharmGKB
|RSID=rs3793784
|Name_s=ERCC6:c.-6530C
|Gene_s=ERCC6
|Feature=
|Evidence=PubMed ID:17854076
|Annotation=This variant has lower binding affinity of Sp1 by EMSA and displays a lower transcriptional activity in vitro and in vivo.It is associated with increased risk for lung cancer.
|Drugs=
|Drug Classes=
|Diseases=Lung Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA161615705
}}

{{PMID Auto
|PMID=21072178
|Title=The ERCC6 Gene and Age-Related Macular Degeneration
|OA=1
}}

{{omim
|id=609413
|rsnum=3793784
|variant=0010
}}

{{PMID|17917691|OA=1
}} Genetic markers and biomarkers for age-related macular degeneration.

{{PMID|18789574}} ERCC6/CSB gene polymorphisms and lung cancer risk.

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3793784
|overall_frequency_n=35
|overall_frequency_d=128
|overall_frequency=0.273438
|n_genomes=24
|n_genomes_annotated=0
|n_haplomes=29
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}