rs2300478

A SNP in the MEIS1 gene on chromosome 2. Its most notable genotype is G;G: >1.7x risk for developing restless legs syndrome

Gene
MEIS1
Location
Chr 266,554,321 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
22%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;ANot ratedNo summary available.Typical · 0.00% of people
  2. G;GMost notableBad>1.7x risk for developing restless legs syndromeWorth knowing · 2.03% of people
  3. G;TBad1.7x risk for developing restless legs syndromeMinor · 1.534% of people
  4. T;TGoodNormal risk of developing restless legs syndromeMinor · 1.062% of people

On SNPedia: (A;A), (G;G), (G;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.

  • AverageA;A 0% G;G 3% G;T 34% T;T 62%
  • European ancestry (Utah)A;A 0% G;G 4% G;T 40% T;T 56%
  • Han Chinese (Beijing)A;A 0% G;G 4% G;T 40% T;T 57%
  • Japanese (Tokyo)A;A 0% G;G 3% G;T 43% T;T 55%
  • Yoruba (Nigeria)A;A 0% G;G 0% G;T 20% T;T 80%
  • African ancestry (Southwest US)A;A 0% G;G 0% G;T 23% T;T 77%
  • Chinese (Denver)A;A 0% G;G 7% G;T 39% T;T 53%
  • Gujarati IndianA;A 0% G;G 8% G;T 47% T;T 46%
  • Luhya (Kenya)A;A 0% G;G <1% G;T 25% T;T 74%
  • Mexican ancestry (Los Angeles)A;A 0% G;G 7% G;T 38% T;T 55%
  • Maasai (Kenya)A;A 0% G;G 0% G;T 15% T;T 85%
  • TuscanA;A 0% G;G 4% G;T 50% T;T 46%

Conditions, medicines and genes

Other MEIS1 SNPs

All MEIS1 SNPs

Notes

From SNPedia

Show notes, about 230 words

rs2300478, a SNP located in the MEIS1 gene, has been linked to restless legs syndrome, a common sleep disorder, with an overall odds ratio of 1.78 (CI: 1.52-2.09) for the (G) risk allele . The association between this SNP and RLS has been replicated in three European populations, within family lines but not in sporadic cases . The highest association to restless legs syndrome is a haplotype consisting of the rs6710341(A) and rs12469063(G) alleles. This haplotype gives rise to an odds ratio of 2.75 (CI: 2.23-3.41) . Variants in MEIS1 rs2300478, BTBD9 rs9357271, and MAP2K5/SKOR1 rs1026732 confer a significant risk of RLS in a US population. In another study, rs2300478 was not associated with attention deficit hyperactivity disorder (ADHD). Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population. Restless Legs Syndrome: Preliminary Research

G;G

Variants in MEIS1 rs2300478, BTBD9 rs9357271, and MAP2K5/SKOR1 rs1026732 confer a significant risk of RLS in a US population. Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population.

G;T

Variants in MEIS1 rs2300478, BTBD9 rs9357271, and MAP2K5/SKOR1 rs1026732 confer a significant risk of RLS in a US population. Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population.

References

Source and license

Adapted from rs2300478 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.