rs28932178

A SNP in the NSD1 gene on chromosome 5. Its most notable genotype is C;C.

Gene
NSD1
Location
Chr 5177,210,575 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
24%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableNot ratedNo summary available.Typical · 0.010% of people
  2. C;TNot ratedNo summary available.Typical · 0.031% of people
  3. T;TGoodcommon/normalTypical · 0.060% of people

On SNPedia: (C;C), (C;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.

  • AverageC;C 10% C;T 31% T;T 60%
  • European ancestry (Utah)C;C 2% C;T 21% T;T 77%
  • Han Chinese (Beijing)C;C 30% C;T 56% T;T 14%
  • Japanese (Tokyo)C;C 21% C;T 48% T;T 31%
  • Yoruba (Nigeria)C;C 3% C;T 11% T;T 86%
  • African ancestry (Southwest US)C;C 2% C;T 25% T;T 74%
  • Chinese (Denver)C;C 23% C;T 48% T;T 29%
  • Gujarati IndianC;C 11% C;T 35% T;T 55%
  • Luhya (Kenya)C;C <1% C;T 20% T;T 79%
  • Mexican ancestry (Los Angeles)C;C 12% C;T 29% T;T 59%
  • Maasai (Kenya)C;C 1% C;T 20% T;T 79%
  • TuscanC;C 1% C;T 27% T;T 73%

Other NSD1 SNPs

All NSD1 SNPs

Notes

From SNPedia

Notes

rs28932178, also known as c.2176T>C, p.Ser726Pro and S726P, is a SNP in the NSD1 gene on chromosome 5. Because some (rare) variants in the NSD1 gene have been linked to Sotos syndrome, an overgrowth syndrome characterized by macrocephaly and learning disabilities, and Sotos syndrome has been observed in some autistic patients, it has been hypothesized that some NSD1 variants may lead to increased risk for autism. However, there is no evidence to date in support of this hypothesis. Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.

C;C

See rs28932178 for additional information.

C;T

See rs28932178 for additional information.

Source and license

Adapted from rs28932178 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.