rs111033640
A SNP in the GALT gene on chromosome 9. Its most notable genotype is -;-: Galactosemia (homozygous Duarte mutation)
- Gene
- GALT
- Location
- Chr 934,646,586 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Most notableBadGalactosemia (homozygous Duarte mutation)
- -;GTCABadcarrier of a Duarte galactosemia allele
- CAGT;CAGTGoodcommon in clinvar
On SNPedia: (-;-), (-;GTCA), (CAGT;CAGT). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other GALT SNPs
- rs75391579G;GGalactosemia (predicted); see discussionVery important
- rs111033647A;AGalactosemia (predicted); see discussionVery important
- rs111033686T;TGalactosemia (predicted); see discussionVery important
- rs111033690T;TGalactosemia (predicted); see discussionVery important
- rs111033709A;AGalactosemia (predicted); see discussionVery important
- rs111033715C;CGalactosemia (predicted); see discussionVery important
- rs111033726C;CGalactosemia (predicted); see discussionVery important
- rs111033728C;CGalactosemia (predicted); see discussionVery important
Notes
From SNPedia
Show notes, about 130 words
aka c.-119_-116del rs111033640 represents a variant consisting of a 4bp deletion occurring in the promoter region of the GALT gene. This variant is tightly linked to the classic Duarte variant (rs2070074); studies over the years have concluded that this 4-bp deletion, rs111033640, is actually the causal mutation in Duarte galactosemia and that rs2070074 is most likely a neutral polymorphism that just happened to be discovered first.OMIM In 2018, a (relatively small) study concluded that infants carrying only one Duarte variant (i.e. heterozygotes) who are fed galactose-containing milk don't show any differences at ages 6-12 compared with those fed normal milk.
-;-
see text and links via main rs-page
-;GTCA
The deletion allele of this SNP is the causal mutation in Duarte galactosemia.
Source and license
Adapted from rs111033640 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.