rs2240340

A SNP in the PADI4 gene on chromosome 1. Its most notable genotype is T;T: slightly increased (1.5x) risk for RA

Gene
PADI4
Location
Chr 117,336,144 (GRCh38)
Highest magnitude
1.5Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
46%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadslightly increased (1.5x) risk for RAMinor · 1.525% of people
  2. C;TBadslightly increased (1.5x) risk for RAMinor · 1.545% of people
  3. C;CGoodaverageTypical · 0.030% of people

SNPedia records rs2240340 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 4 HapMap populations.

  • AverageT;T 25% C;T 45% C;C 30%
  • European ancestry (Utah)T;T 20% C;T 43% C;C 37%
  • Han Chinese (Beijing)T;T 18% C;T 47% C;C 36%
  • Japanese (Tokyo)T;T 22% C;T 42% C;C 36%
  • Yoruba (Nigeria)T;T 40% C;T 48% C;C 13%

Conditions, medicines and genes

Other PADI4 SNPs

All PADI4 SNPs

Notes

From SNPedia

Show notes, about 140 words

Several studies have all found that rs2240340, a SNP in the PADI4 gene, is associated with risk for developing rheumatoid arthritis (RA). The risk allele in dbSNP orientation is (T). The largest study involved over 2,000 RA patients, and although implicating PTPN22 SNPs with greater risk, PADI4 SNP rs2240340 was also implicated. The odds ratio varied between the two (European) populations a bit, but when combined, was 1.10 (CI: 1.00 - 1.21) for the risk allele. Additional studies include: rs2240340 was modestly associated with rheumatoid arthritisin a study of 950 unrelated Japanese subjects with RA, with an odds ratio of 1.22 (CI: 1.04 - 1.43,p=0.012). rs2240340 was associated with rheumatoid arthritis with an odds ratio of 1.97 (CI: 1.44 – 2.69), based on 830 cases and 736 controls .

Source and license

Adapted from rs2240340 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.