rs1800630

A SNP in the LOC100287329 gene on chromosome 6. Its most notable genotype is A;A: 1.8x increased lupus risk

Gene
LOC100287329
Location
Chr 631,574,699 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
15%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableNot rated1.8x increased lupus riskTypical · 0.02% of people
  2. A;CNot rated1.8x increased lupus riskTypical · 0.025% of people
  3. C;CNot ratednormalTypical · 0.074% of people

On SNPedia: (A;A), (A;C), (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.

  • AverageA;A 2% A;C 25% C;C 74%
  • European ancestry (Utah)A;A 0% A;C 30% C;C 70%
  • Han Chinese (Beijing)A;A 2% A;C 29% C;C 69%
  • Japanese (Tokyo)A;A <1% A;C 20% C;C 79%
  • Yoruba (Nigeria)A;A 1% A;C 16% C;C 82%
  • African ancestry (Southwest US)A;A 0% A;C 21% C;C 79%
  • Chinese (Denver)A;A 4% A;C 32% C;C 64%
  • Gujarati IndianA;A 5% A;C 35% C;C 60%
  • Luhya (Kenya)A;A 2% A;C 23% C;C 76%
  • Mexican ancestry (Los Angeles)A;A 3% A;C 24% C;C 72%
  • Maasai (Kenya)A;A 0% A;C 11% C;C 89%
  • TuscanA;A 2% A;C 29% C;C 69%

Conditions, medicines and genes

Other LOC100287329 SNPs

All LOC100287329 SNPs

Notes

From SNPedia

Notes

rs1800630 is a SNP upstream of the tumor necrosis alpha (TNF) gene; this SNP is also typically called the -863 variant. In a study of 154 Thai patients with systemic lupus erythematosus (SLE), rs1800630(A) allele frequency was significantly increased, with an odds ratio of 1.85 (CI: 1.21-2.83, p(corr) = 0.009). This allele was also found to be significantly increased in the SLE group with Raynaud's phenomenon compared to SLE without Raynaud's phenomenon ( odds ratio of 2.23, CI: 1.21-4.10, p(corr) = 0.048). Separately, a meta-analysis of 10 case-control studies, including over 2,200 Graves' disease cases, concluded that rs1800630(A) carriers were associated with the disease.

Source and license

Adapted from rs1800630 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.