rs121908428
A SNP in the SLC12A6 gene on chromosome 15. Its most notable genotype is A;A: ACCPN neurological disorder
- Gene
- SLC12A6
- Location
- Chr 1534,243,993 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GBadcarrier of an ACCPN neurological mutation
- A;AMost notableBadACCPN neurological disorder
SNPedia records rs121908428 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Notes
rs121908428, also known as R675X, is a SNP in the SLC12A6 gene. The risk allele rs121908428(T) accounts for most of the ACCPN mutations seen in French-Canadian populations. Note that 23andMe reports this SNP from the opposite strand as dbSNP, so for their equivalent SNP, i5012575, the risk allele is (A).
A;A
ACCPN = Agenesis of the Corpus Callosum with Peripheral Neuropathy
Source and license
Adapted from rs121908428 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.