rs73969684
A SNP in the SCN9A gene on chromosome 2. Its most notable genotype is C;T: Possible pain-related mutation, but, may be benign
- Gene
- SCN9A
- Location
- Chr 2166,305,834 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Show notes, about 120 words
rs73969684, also known as c.554G>A, p.Arg185His and R185H, represents a rare variant in the SCN9A gene on chromosome 2. The minor allele is found at a frequency of around 0.003 (~1 in 300). The significance of the minor allele is unclear. Mutations in the SCN9A gene are known to cause small fiber neuropathy and paroxysmal extreme pain disorder (often associated with yawning), but this particular mutation, rs73969684(T) - as indicated in dbSNP orientation - is reported as likely to be benign by one submitter to ClinVar. However, three publications describe several patients, most of whom are children, with this mutation and pain-related disorders.,,
C;T
Significance is unclear; see discussion at rs73969684
Source and license
Adapted from rs73969684 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.