rs144993986
A SNP in the GALT gene on chromosome 9. Its most notable genotype is C;T: Carrier of a galactosemia mutation
- Gene
- GALT
- Location
- Chr 934,649,487 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadCarrier of a galactosemia mutation
On SNPedia: (C;C), (C;T). 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
Notes
aka c.982C>T, p.Arg328Cys, and R328C
C;T
Unaffected in absence of a second GALT gene mutation
Source and license
Adapted from rs144993986 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.