rs3793784
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;G) | 2 | 1.5x risk for ARMD |
| (G;G) | 2 | 1.6x risk for ARMD |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 49539493 |
| Gene | ERCC6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3793784 |
| dbSNP (classic) | rs3793784 |
| ClinGen | rs3793784 |
| ebi | rs3793784 |
| HLI | rs3793784 |
| Exac | rs3793784 |
| Gnomad | rs3793784 |
| Varsome | rs3793784 |
| LitVar | rs3793784 |
| Map | rs3793784 |
| PheGenI | rs3793784 |
| Biobank | rs3793784 |
| 1000 genomes | rs3793784 |
| hgdp | rs3793784 |
| ensembl | rs3793784 |
| geneview | rs3793784 |
| scholar | rs3793784 |
| rs3793784 | |
| pharmgkb | rs3793784 |
| gwascentral | rs3793784 |
| openSNP | rs3793784 |
| 23andMe | rs3793784 |
| SNPshot | rs3793784 |
| SNPdbe | rs3793784 |
| MSV3d | rs3793784 |
| GWAS Ctlg | rs3793784 |
| GMAF | 0.2723 |
| Max Magnitude | 2 |
| ? | (C;C) (C;G) (G;G) | 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
]
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]
[PMID 21072178] The ERCC6 Gene and Age-Related Macular Degeneration
[PMID 17917691] Genetic markers and biomarkers for age-related macular degeneration.
[PMID 18789574] ERCC6/CSB gene polymorphisms and lung cancer risk.
| ClinVar | |
|---|---|
| Risk | Rs3793784(G;G) |
| Alt | Rs3793784(G;G) |
| Reference | Rs3793784(C;C) |
| Significance | Other |
| Disease | Age-related macular degeneration 5 LUNG CANCER |
| Variation | info |
| Gene | ERCC6 |
| CLNDBN | Age-related macular degeneration 5 LUNG CANCER, SUSCEPTIBILITY TO |
| Reversed | 1 |
| HGVS | NC_000010.10:g.50747539G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001778.3, RCV000001779.4, |
