From SNPedia
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]
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]
| ? | (C;C) (C;G) (G;G) |
|---|
 |
Related to EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
according to
omim 609413. See
also
| PharmGKB | PA161615705 |
| Name | ERCC6:c.-6530C |
| 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. |
| Gene | ERCC6 |
| Featue | |
| Evidence | PubMed ID:17854076 |
| Drugs | |
| Diseases | Lung Neoplasms |
| Curation Level | Curated |
