rs3131296

A SNP in the NOTCH4 gene on chromosome 6. Its most notable genotype is C;C: 1.4x increased risk for schizophrenia

Gene
NOTCH4
Location
Chr 632,205,216 (GRCh38)
Highest magnitude
1.4Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
7%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TGoodnormal risk for developing schizophreniaTypical · 0.0<1% of people
  2. C;TBad1.2x increased risk for schizophreniaMinor · 1.213% of people
  3. C;CMost notableBad1.4x increased risk for schizophreniaMinor · 1.487% of people

SNPedia records rs3131296 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 11 HapMap populations.

  • AverageT;T <1% C;T 13% C;C 87%
  • European ancestry (Utah)T;T 0% C;T 17% C;C 83%
  • Han Chinese (Beijing)T;T 2% C;T 9% C;C 90%
  • Japanese (Tokyo)T;T 0% C;T 4% C;C 96%
  • Yoruba (Nigeria)T;T 0% C;T 4% C;C 96%
  • African ancestry (Southwest US)T;T 0% C;T 18% C;C 82%
  • Chinese (Denver)T;T 0% C;T 7% C;C 93%
  • Gujarati IndianT;T 2% C;T 14% C;C 84%
  • Luhya (Kenya)T;T 0% C;T 18% C;C 82%
  • Mexican ancestry (Los Angeles)T;T 0% C;T 14% C;C 86%
  • Maasai (Kenya)T;T 0% C;T 12% C;C 88%
  • TuscanT;T 0% C;T 24% C;C 76%

Conditions, medicines and genes

Other NOTCH4 SNPs

All NOTCH4 SNPs

Notes

From SNPedia

Notes

23andMe blog schizophrenia *rs3131296(C) increased the odds of schizophrenia by 1.19x *rs12807809(T) increased the odds of schizophrenia by 1.15x *rs9960767(C) increased the odds of schizophrenia by 1.23 times. A study of ~2,500 Han Chinese patients with schizophrenia did find rs3131296 to be significantly associated in this population.

Source and license

Adapted from rs3131296 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.