rs2070074
A SNP in the GALT gene on chromosome 9. Its most notable genotype is G;G: harmless ancestral form
- Gene
- GALT
- Location
- Chr 934,649,445 (GRCh38)
- Highest magnitude
- 1.5Minor
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 5%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;GGoodharmless ancestral galactosemia variant carrier
- G;GMost notableNot ratedharmless ancestral form
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageA;A 92% A;G 8% G;G <1%
- European ancestry (Utah)A;A 74% A;G 25% G;G 2%
- Han Chinese (Beijing)A;A 93% A;G 7% G;G 0%
- Japanese (Tokyo)A;A 100% A;G 0% G;G 0%
- Yoruba (Nigeria)A;A 100% A;G 0% G;G 0%
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.940A>G, p.Asn314Asp, N314D, and N205D A 2017 publication states that the rs2070074(G) variant was originally described as pathogenic (when inherited recessively) for galactosemia, but then it was later reclassified as benign when it was discovered to be in linkage disequilibrium with the actual pathogenic variant (rs111033640; c.-119_-116del). Galactosemia
A;G
This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity.
G;G
This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity.
Source and license
Adapted from rs2070074 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.