rs111033690

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

Gene
GALT
Location
Chr 934,647,858 (GRCh38)
Highest magnitude
8.0Very important
Tested on
Not on consumer chips
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in complete genomicsTypical · 0.0
  2. C;TBadCarrier of a GALT gene mutationImportant · 3.0
  3. T;TMost notableBadGalactosemia (predicted); see discussionVery important · 8.0

On SNPedia: (C;C), (C;T), (T;T). 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

rs111033690, also known as c.404C>T, p.Ser135Leu and S135L, represents a variant in the GALT gene on chromosome 9. The rs111033690(T) allele is considered a pathogenic mutation associated with galactosemia, a recessively inherited disorder typically first diagnosed in newborns. This mutation has been reported as occurring only in individuals of African descent. 23andMe name for c.404C>T: i5002975

C;T

Unaffected in absence of a second GALT gene mutation.

T;T

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

Source and license

Adapted from rs111033690 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.