Sequencings

Markers / SCN9A

rs4369876

Neanderthal: pain sensitivity, V991L

GeneSCN9A
Positionchr2:167,129,256
VersionsC / A
Evidencestrong

What this position does

The second of the three Neanderthal changes in the pain-signalling sodium channel.

What each result means

If you carryWhat it means
No copies of the effect version
CC
Not inherited
Neither copy carries this Neanderthal change.
One copy
AC
Inherited from one parent
One copy. The three variants act together, so the effect depends on how many of them you carry.
Two copies
AA
Inherited from both parents
Two copies.

How common each version is

Ancestry groupA (the effect version)
African0.3%
American12.7%
East Asian6.1%
European0.0%
South Asian1.3%

1000 Genomes Project phase 3, via Ensembl, retrieved 2026-09-23. These groupings are coarse and flatten a great deal of internal diversity, particularly within Africa. A variant being common somewhere tells you where a piece of your ancestry probably comes from, and nothing else.

How many people carry each result

Ancestry groupCCACAA
African657 / 6614 / 6610 / 661
European503 / 5030 / 5030 / 503
East Asian445 / 50457 / 5042 / 504
South Asian476 / 48913 / 4890 / 489
American266 / 34774 / 3477 / 347

Counts of people, not modelled frequencies: every one of the 2,504 individuals sequenced by the 1000 Genomes Project phase 3, tallied by the genotype they carry. Deriving these from allele frequencies instead would assume random mating inside each group and undercount the homozygotes.

How to find out which you have

If you have taken a test with 23andMe, AncestryDNA, MyHeritage, Family Tree DNA, TellMeGen or Living DNA, this position is very likely already in the raw data file they gave you. You do not need another test.

One thing to watch if you look it up by hand: testing companies report some positions from one DNA strand and some from the other, and the file does not say which. Read the letters as they appear and you will get the opposite of the truth for some positions. Sequencings resolves that automatically.

Source

Desai et al., Neanderthal introgression in SCN9A impacts mechanical pain sensitivity, Communications Biology (2023)

Coordinates and allele pair verified against Ensembl GRCh37. Direction of effect verified against VEP protein consequences or 1000 Genomes population frequency. Category: Archaic DNA.

Related

All markers in SCN9A

Where this fits

Common questions

What is rs4369876?

rs4369876 is a position in the SCN9A gene on chromosome 2. The second of the three Neanderthal changes in the pain-signalling sodium channel.

What does it mean if I have AA at rs4369876?

Inherited from both parents. Two copies.

What does it mean if I have CC at rs4369876?

Not inherited. Neither copy carries this Neanderthal change.

How do I find out my rs4369876 genotype?

If you have taken a home DNA test, this position is very likely in the raw data file you were given. Sequencings reads that file in your browser without uploading it, and resolves which DNA strand each position was reported from, which is the step most manual lookups get wrong.

This is reference information, not medical advice, and not a diagnosis. See the medical disclaimer. Category: Archaic DNA.