rs4959053

A SNP in the PSORS1C1 gene on chromosome 6. Its most notable genotype is A;A: Increased (>4.4x?) risk of Behcet's disease

Gene
PSORS1C1
Location
Chr 631,131,800 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
7%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadIncreased (>4.4x?) risk of Behcet's diseaseImportant · 3.0<1% of people
  2. A;GBadIncreased (4.38x) risk of Behcet's diseaseWorth knowing · 2.014% of people
  3. G;GGoodNormalTypical · 0.085% of people

On SNPedia: (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.

  • AverageA;A <1% A;G 14% G;G 85%
  • European ancestry (Utah)A;A <1% A;G 16% G;G 83%
  • Han Chinese (Beijing)A;A <1% A;G 17% G;G 83%
  • Japanese (Tokyo)A;A 2% A;G 16% G;G 82%
  • Yoruba (Nigeria)A;A 0% A;G 1% G;G 99%
  • African ancestry (Southwest US)A;A 0% A;G 4% G;G 97%
  • Chinese (Denver)A;A 3% A;G 23% G;G 74%
  • Gujarati IndianA;A 0% A;G 33% G;G 67%
  • Mexican ancestry (Los Angeles)A;A 0% A;G 12% G;G 88%
  • Maasai (Kenya)A;A 0% A;G 1% G;G 99%
  • TuscanA;A 1% A;G 16% G;G 83%

Other PSORS1C1 SNPs

All PSORS1C1 SNPs

Notes

From SNPedia

Notes

A 2012 study of ~600 Chinese patients with Behcet's disease indicated an association with rs4959053; the odds ratio was 4.38 (CI: 3.2-5.9, p = 2.2e-20). This SNP, one of several found in one of three linkage blocks in the region showing association with Behcet's disease, showed the strongest association.

A;A

see rs4959053

A;G

see rs4959053

Source and license

Adapted from rs4959053 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.