rs61731956
A SNP in the NR1H3 gene on chromosome 11. Its most notable genotype is A;A.
- Gene
- NR1H3
- Location
- Chr 1147,268,596 (GRCh38)
- Highest magnitude
- 1.0Minor
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 180 words
rs61731956, also known as c.1244G>A, p.Arg415Gln or R415Q, represents a rare mutation in the NR1H3 gene on chromosome 11. This mutation is a missense mutation causing the loss of function of its gene product, the LXRA protein. Based on a study of seven multiple sclerosis patients from two families presenting with severe, progessive disease (and an average onset of 34 years), the rs61731956(A) allele was estimated to be causative for multiple sclerosis, with individuals carrying this mutation having a 70% chance of developing the disease. The authors note that "the presence of seemingly unaffected obligate carriers and one male sibling at age 55 indicates that the penetrance of the mutation is incomplete, and additional genetic or environmental factors may be required for the onset of MS". However comments in pubmed on the original article and then a replication analysis in a much larger sample collection strongly suggest this is not real. http://biorxiv.org/content/early/2016/06/29/061366
A;A
Briefly associated with MS, this has been thoroughly debunked.
A;G
briefly associated with MS then debunked
Source and license
Adapted from rs61731956 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.