rs35583475
A SNP in the SLC12A6 gene on chromosome 15. Its most notable genotype is G;T: Carrier of an Andermann syndrome mutation
- Gene
- SLC12A6
- Location
- Chr 1534,254,503 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GGoodLikely to be a benign polymorphism
- G;GGoodcommon in clinvar
- G;TMost notableBadCarrier of an Andermann syndrome mutation
On SNPedia: (A;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Notes
aka c.963C>A (p.Tyr321Ter or Y321X) and also c.963C>T (p.Tyr321=); the latter is annotated in ClinVar as likely to be benign, while the former has been reported as likely to be pathogenic for Andermann syndrome, a recessively inherited disorder. Note that the ref and alt alleles that are tested by both Ancestry and 23andMe are G and A, respectively, which means they represent the benign c.963C>T variant, since the alleles are reported by these companies based on the forward/plus strand, whereas the cDNA for the SLC12A6 gene is reported on the reverse/minus strand.
A;G
see text on main rs-page
G;T
Unaffected in absence of a second mutation in the SLC12A6 gene; see text of main rs-page
Source and license
Adapted from rs35583475 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.