rs2076530

A SNP in the LOC101929163 gene on chromosome 6. Its most notable genotype is T;T: 2x risk for sarcoidosis

Gene
LOC101929163
Location
Chr 632,396,039 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
38%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBad2x risk for sarcoidosisTypical · 0.047% of people
  2. C;TBadincreased risk for sarcoidosisTypical · 0.039% of people
  3. C;CNot ratednormalTypical · 0.014% of people

SNPedia records rs2076530 on the minus strand: (A;A), (A;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 10 HapMap populations.

  • AverageT;T 47% C;T 39% C;C 14%
  • European ancestry (Utah)T;T 30% C;T 46% C;C 23%
  • Han Chinese (Beijing)T;T 51% C;T 37% C;C 12%
  • Japanese (Tokyo)T;T 57% C;T 25% C;C 18%
  • Yoruba (Nigeria)T;T 50% C;T 44% C;C 5%
  • African ancestry (Southwest US)T;T 49% C;T 40% C;C 11%
  • Gujarati IndianT;T 36% C;T 46% C;C 18%
  • Luhya (Kenya)T;T 68% C;T 26% C;C 6%
  • Mexican ancestry (Los Angeles)T;T 16% C;T 59% C;C 26%
  • Maasai (Kenya)T;T 67% C;T 31% C;C 2%
  • TuscanT;T 45% C;T 40% C;C 16%

Conditions, medicines and genes

Other LOC101929163 SNPs

All LOC101929163 SNPs

Notes

From SNPedia

Notes

rs2076530(A) was estimated to double the risk of developing sarcoidosis, at least as based on a study of Caucasians. Although by itself it was not associated with increased risk for sarcoidosis in a population of African descent, this allele was part of a disease-associated haplotype. The rs2076530 SNP has also been investigated for associations with multiple sclerosis, Type-1 diabetes, SLE, and rheumatoid arthritis, but any association seen has apparently been due to carryover effects from nearby major histocompatibility haplotypes. PMID 16690410, PMID 16321988 rs2076530(A;A) associated with a risk of sensitization towards Der f allergies (Odds ratio; 1.55, p = 0.0060)

Source and license

Adapted from rs2076530 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.