rs4626664

A SNP in the PTPRD gene on chromosome 9. Its most notable genotype is A;A: >1.44x increased risk of developing restless legs syndrome

Gene
PTPRD
Location
Chr 99,261,737 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
26%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBad>1.44x increased risk of developing restless legs syndromeWorth knowing · 2.07% of people
  2. A;GBad1.44x increased risk of developing restless legs syndromeMinor · 1.541% of people
  3. G;GGoodNormal risk of developing restless legs syndromeMinor · 1.052% 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 9 HapMap populations.

  • AverageA;A 7% A;G 41% G;G 52%
  • European ancestry (Utah)A;A <1% A;G 24% G;G 76%
  • Han Chinese (Beijing)A;A 8% A;G 45% G;G 47%
  • Japanese (Tokyo)A;A 8% A;G 47% G;G 45%
  • Yoruba (Nigeria)A;A 5% A;G 44% G;G 51%
  • African ancestry (Southwest US)A;A 16% A;G 39% G;G 46%
  • Chinese (Denver)A;A 18% A;G 55% G;G 27%
  • Gujarati IndianA;A 6% A;G 35% G;G 59%
  • Luhya (Kenya)A;A <1% A;G 42% G;G 57%
  • Maasai (Kenya)A;A 1% A;G 34% G;G 65%

Conditions, medicines and genes

Other PTPRD SNPs

All PTPRD SNPs

Notes

From SNPedia

Notes

rs4626664, a SNP in the motor neuron PTPRD gene, has been linked to restless legs syndrome based on a study of several European populations totaling ~2,500 patients. The odds ratio associated with the rs4626664(A) risk allele is 1.44 (CI: 1.31-1.59, adjusted p = 5 x 10e-10). Note that a nearby SNP, rs1975197, was also shown to independently confer risk for restless legs syndrome in this same study. Restless Legs Syndrome: Preliminary Research

Source and license

Adapted from rs4626664 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.