rs4678

A SNP in the VARS2 gene on chromosome 6. Its most notable genotype is G;G: common in clinvar

Gene
VARS2
Location
Chr 630,926,164 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
11%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableGoodcommon in clinvarTypical · 0.080% of people

SNPedia records rs4678 on the minus strand: (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageG;G 80%
  • European ancestry (Utah)G;G 67%
  • Han Chinese (Beijing)G;G 88%
  • Japanese (Tokyo)G;G 98%
  • Yoruba (Nigeria)G;G 79%
  • African ancestry (Southwest US)G;G 75%
  • Chinese (Denver)G;G 89%
  • Gujarati IndianG;G 86%
  • Luhya (Kenya)G;G 65%
  • Mexican ancestry (Los Angeles)G;G 83%
  • Maasai (Kenya)G;G 80%
  • TuscanG;G 67%

Conditions, medicines and genes

Other VARS2 SNPs

All VARS2 SNPs

Notes

From SNPedia

Notes

rs4678 is a SNP representing an Arg/Gln variation in the VARS2L gene. A study of 855 rheumatoid arthritis patients concluded that rs4678 was one of only two SNPs representing an additional susceptibility gene - in addition to HLA-DRB1 - within the MHC region. There is some inconsistency in this SNP. The reference assembly considers it a A/G while RefSNP calls it a C/T.

Source and license

Adapted from rs4678 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.