rs75391579

A SNP in the GALT gene on chromosome 9. Its most notable genotype is G;G: Galactosemia (predicted); see discussion

Gene
GALT
Location
Chr 934,648,170 (GRCh38)
Highest magnitude
8.0Very important
Tested on
AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon in clinvarTypical · 0.0
  2. A;GBadCarrier of a GALT gene mutationImportant · 3.0
  3. G;GMost notableBadGalactosemia (predicted); see discussionVery important · 8.0

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 GALT SNPs

All GALT SNPs

Notes

From SNPedia

Notes

rs75391579, also known as c.563A>G, p.Gln188Arg and Q188R, represents a variant in the GALT gene on chromosome 9. The rs75391579(G) allele is considered a pathogenic mutation associated with galactosemia, a recessively inherited disorder typically first diagnosed in newborns. This mutation has been reported as one of the most frequently occurring GALT gene mutations in the US and in some European/Caucasian populations. 23andMe name: i5002979

A;G

Unaffected in absence of a second GALT gene mutation; see discussion at rs75391579 and at the GALT gene page.

G;G

See discussion at GALT gene; condition is treated by dietary modifications.

Source and license

Adapted from rs75391579 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.