rs17435

A SNP in the MECP2 gene on chromosome X. Its most notable genotype is A;T: 1.4x increased risk for lupus

Gene
MECP2
Location
Chr X154,046,529 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
48%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;ANot ratednormalTypical · 0.036% of people
  2. A;TMost notableBad1.4x increased risk for lupusWorth knowing · 2.024% of people
  3. T;TBad1.4x increased risk for lupusWorth knowing · 2.040% of people

On SNPedia: (A;A), (A;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 10 HapMap populations.

  • AverageA;A 36% A;T 24% T;T 40%
  • European ancestry (Utah)A;A 69% A;T 13% T;T 18%
  • Han Chinese (Beijing)A;A 7% A;T 24% T;T 69%
  • Japanese (Tokyo)A;A 18% A;T 19% T;T 63%
  • Yoruba (Nigeria)A;A 24% A;T 19% T;T 58%
  • African ancestry (Southwest US)A;A 35% A;T 35% T;T 30%
  • Gujarati IndianA;A 33% A;T 21% T;T 46%
  • Luhya (Kenya)A;A 33% A;T 29% T;T 38%
  • Mexican ancestry (Los Angeles)A;A 43% A;T 29% T;T 28%
  • Maasai (Kenya)A;A 35% A;T 28% T;T 37%
  • TuscanA;A 64% A;T 23% T;T 13%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 150 words

rs17435 is one of several SNPs in the methyl CpG binding protein 2 (MECP2) that have been associated with risk for systemic lupus erythromatosis (SLE). The MECP2 gene is located on the X chromosome, which may be instructive since lupus is a predominantly female disease. An initial survey of 600 Korean patients, followed by 1,000 Caucasian patients, ultimately led to a meta-analysis indicating an odds ratio for the rs17435(T) risk allele of 1.39 (CI: 1.24–1.56, p = 1.2×10e-08). Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus. Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study. A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations.

Source and license

Adapted from rs17435 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.