rs3738919

A SNP in the ITGAV gene on chromosome 2. Its most notable genotype is C;C: 1.94x risk of developing rheumatoid arthritis

Gene
ITGAV
Location
Chr 2186,656,533 (GRCh38)
Highest magnitude
2.5Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
21%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodNormal risk of developing rheumatoid arthritisMinor · 1.04% of people
  2. A;CBad1.94x risk of developing rheumatoid arthritisWorth knowing · 2.028% of people
  3. C;CMost notableBad1.94x risk of developing rheumatoid arthritisWorth knowing · 2.567% 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 4% A;C 28% C;C 67%
  • European ancestry (Utah)A;A 8% A;C 46% C;C 46%
  • Han Chinese (Beijing)A;A <1% A;C 10% C;C 89%
  • Japanese (Tokyo)A;A 3% A;C 16% C;C 81%
  • Yoruba (Nigeria)A;A <1% A;C 28% C;C 71%
  • African ancestry (Southwest US)A;A 2% A;C 30% C;C 68%
  • Chinese (Denver)A;A 0% A;C 9% C;C 91%
  • Gujarati IndianA;A 13% A;C 38% C;C 50%
  • Luhya (Kenya)A;A <1% A;C 26% C;C 73%
  • Mexican ancestry (Los Angeles)A;A 5% A;C 28% C;C 67%
  • Maasai (Kenya)A;A 5% A;C 34% C;C 61%
  • TuscanA;A 11% A;C 45% C;C 44%

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs3738919, a SNP located in the ITGAV gene, was identified in a European study to be associated with rheumatoid arthritis (RA). The risk allele for rs3738919 is the more common allele, (C). For the three European Caucasian populations studied (372 RA patients + 330 controls), and combining the (C;C) and (A;C) genotypes in comparison to the (A;A) genotype, the odds ratio for RA = 1.94 (CI: 1.3&#226;&#8364;&#8220;2.9, p = 0.002). There was no significant difference in RA risk between those carrying one or two (C) alleles. An editorial about this finding has been published.

Source and license

Adapted from rs3738919 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.