rs572115942
A SNP in the PHKG2 gene on chromosome 16. Its most notable genotype is A;G: In type-1 diabetics (only), Mauriac syndrome predicted
- Gene
- PHKG2
- Location
- Chr 1630,756,714 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 130 words
rs572115942, also known as c.1136G>A, p.Arg309Gln and R309Q, is a rare variant in the PHKG2 gene on chromosome 16. The PHKG2 gene encodes an enzyme required to break down glycogen in the liver. In a pediatric patient with Mauriac syndrome, a rare syndrome found in some children with poorly controlled type-1 diabetes, a single rs572115942(A) allele was found by sequencing. The patient's mother carried the same allele, but did not have diabetes or hepatomegaly; his father had childhood type-1 diabetes but didn't have the mutation, hepatomegaly or growth failure. The authors conclude that in patients with type-1 diabetes, liver glycogen accumulates due to combination of the mutated enzyme and high blood sugar, leading to the enlarged liver and Mauriac syndrome.
A;G
see discussion at rs572115942
Source and license
Adapted from rs572115942 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.