rs138977195

A SNP in the SLC12A3 gene on chromosome 16. Its most notable genotype is A;A: Familial hypokalemia-hypomagnesemia (Gitelman syndrome)

Gene
SLC12A3
Location
Chr 1656,887,967 (GRCh38)
Highest magnitude
4.5Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadFamilial hypokalemia-hypomagnesemia (Gitelman syndrome)Very important · 4.5
  2. A;GBadCarrier of a mutation for familial hypokalemia-hypomagnesemiaImportant · 3.0
  3. G;GGoodcommon/normalTypical · 0.0

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other SLC12A3 SNPs

All SLC12A3 SNPs

Notes

From SNPedia

Notes

SLC12A3 gene, c.2221G>A (p.Gly741Arg) Minor allele is pathogenic for Familial hypokalemia-hypomagnesemia (Gitelman syndrome); recessively inherited

A;A

see discussion

A;G

Unaffected unless carrying another pathogenic mutation in the SLC12A3 gene

Source and license

Adapted from rs138977195 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.