rs137853336

A SNP in the HNF4A gene on chromosome 20. Its most notable genotype is C;T: associated with MODY1; maturity onset of diabetes in the young (type 1)

Gene
HNF4A
Location
Chr 2044,413,714 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TMost notableBadassociated with MODY1; maturity onset of diabetes in the young (type 1)Worth knowing · 2.0

On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

aka c.406C>T (p.Arg136Trp or R136W); known in older literature as c.340C>T (p.Arg114Trp or R114W) A 2019 study of >300,000 UK BioBank participants of European ancestry concluded that while this variant is associated with a higher risk of diabetes (OR 2.9, CI: 1.7-5.0, p=3x1-e-4), the penetrance was estimated to be <10%. Therefore, if this variant is seen in a diabetic, it might be the primary cause, but incidental discovery of the variant in a healthy (non-diabetic) individual is of little predictive value. See also OMIM 600281.0003

Source and license

Adapted from rs137853336 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.