rs3793784

A SNP in the ERCC6 gene on chromosome 10. Its most notable genotype is C;G: 1.5x risk for ARMD

Gene
ERCC6
Location
Chr 1049,539,493 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
27%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GNot ratednormalTypical · 0.060% of people
  2. C;GMost notableBad1.5x risk for ARMDWorth knowing · 2.030% of people
  3. C;CBad1.6x risk for ARMDWorth knowing · 2.010% of people

SNPedia records rs3793784 on the minus strand: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 4 HapMap populations.

  • AverageG;G 60% C;G 30% C;C 10%
  • European ancestry (Utah)G;G 41% C;G 44% C;C 16%
  • Han Chinese (Beijing)G;G 50% C;G 39% C;C 11%
  • Japanese (Tokyo)G;G 50% C;G 36% C;C 14%
  • Yoruba (Nigeria)G;G 98% C;G 2% C;C 0%

Conditions, medicines and genes

Other ERCC6 SNPs

All ERCC6 SNPs

Genosets

Genosets combine several genotypes. Twofold checks them in your report.

Notes

From SNPedia

Show notes, about 160 words

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). 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). Genetic markers and biomarkers for age-related macular degeneration. ERCC6/CSB gene polymorphisms and lung cancer risk.

C;C

slightly increased risk of ARMD but if also rs380390(C;C) the risk is greatly increased, this should be automatically detected by gs134

Source and license

Adapted from rs3793784 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.