rs12478318
A SNP in the SCN9A gene on chromosome 2. Its most notable genotype is G;T: Possibly somewhat more insensitive to pain (see discussion)
- Gene
- SCN9A
- Location
- Chr 2166,277,030 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;TMost notableGoodPossibly somewhat more insensitive to pain (see discussion)
- T;TGoodcommon in clinvar
On SNPedia: (G;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 8 HapMap populations.
- AverageG;T 11% T;T 89%
- European ancestry (Utah)G;T <1% T;T 99%
- Han Chinese (Beijing)G;T 13% T;T 87%
- Japanese (Tokyo)G;T 12% T;T 89%
- Yoruba (Nigeria)G;T 0% T;T 100%
- African ancestry (Southwest US)G;T 4% T;T 97%
- Chinese (Denver)G;T 11% T;T 89%
- Gujarati IndianG;T 3% T;T 97%
- Mexican ancestry (Los Angeles)G;T 42% T;T 58%
Related
Notes
From SNPedia
Show notes, about 130 words
aka c.2794A>C (p.Met932Leu or M932L); however, in older literature, it is called c.2796A>C (although still M932L) because that was how it was named in one of the earliest publications describing it The variant allele for this SNP is apparently tightly linked to the variant allele for rs4369876. There are at least two publications in which the complex allele carrying both variants is reported to be associated with congenital insensitivity to pain (CIP) and/or lower post-operative pain following surgery. However, there is also a report of a patient carrying this complex allele who had a small fiber neuropathy and increased pain. It is unclear how this can be reconciled with the reports of decreased pain associated with this complex allele.
G;T
see discussion and links via main rs-page
Source and license
Adapted from rs12478318 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.