rs1049550

A SNP in the ANXA11 gene on chromosome 10. Its most notable genotype is G;G: 1.6x increased risk of sarcoidosis

Gene
ANXA11
Location
Chr 1080,166,946 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
42%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableNot rated1.6x increased risk of sarcoidosisTypical · 0.041% of people
  2. A;GNot ratedNo summary available.Typical · 0.039% of people
  3. A;AGood0.62x reduced risk for sarcoidosisTypical · 0.020% of people

SNPedia records rs1049550 on the minus strand: (C;C), (C;T), (T;T). 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 41% A;G 39% A;A 20%
  • European ancestry (Utah)G;G 36% A;G 47% A;A 17%
  • Han Chinese (Beijing)G;G 11% A;G 43% A;A 46%
  • Japanese (Tokyo)G;G 11% A;G 46% A;A 43%
  • Yoruba (Nigeria)G;G 67% A;G 32% A;A <1%
  • African ancestry (Southwest US)G;G 70% A;G 27% A;A 4%
  • Chinese (Denver)G;G 8% A;G 46% A;A 46%
  • Gujarati IndianG;G 49% A;G 38% A;A 14%
  • Luhya (Kenya)G;G 78% A;G 20% A;A 2%
  • Mexican ancestry (Los Angeles)G;G 35% A;G 47% A;A 18%
  • Maasai (Kenya)G;G 55% A;G 36% A;A 10%
  • TuscanG;G 32% A;G 51% A;A 17%

Conditions, medicines and genes

Other ANXA11 SNPs

All ANXA11 SNPs

Notes

From SNPedia

Show notes, about 120 words

rs1049550, also known as R230C, is a SNP in the annexin A11 ANXA11 gene. 499 German individuals with sarcoidosis and 490 controls; Validation in an independent sample 1,649 cases, 1,832 controls. rs2789679: P = 3.0 x 10(-13), rs7091565: P = 1.0 x 10(-5)rs1049550, T > C, R230C was found to be strongly associated with sarcoidosis. rs2789679 P = 3.0 x 10(-13), rs7091565: P = 1.0 x 10(-5), allele-based test). Extensive fine mapping located the association signal to a region between exon 5 and exon 14 of ANXA11. A common nonsynonymous SNP (rs1049550, T > C, R230C) was found to be strongly associated with sarcoidosis Note that several ANXA11 SNPs are all tightly linked: rs1953600, rs2573346, rs2784773 and rs1049550.

Source and license

Adapted from rs1049550 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.