rs116987552
A SNP in the PYGM gene on chromosome 11. Its most notable genotype is A;A: McArdle disease (also known as glycogen storage disease type V)
- Gene
- PYGM
- Location
- Chr 1164,759,751 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadMcArdle disease (also known as glycogen storage disease type V)
- A;GBadCarrier of a McArdle disease mutation
- G;GGoodcommon in clinvar
On SNPedia: (A;A), (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
Other PYGM SNPs
- rs119103251T;TMcArdle disease (also known as glycogen storage disease type V)Very important
- rs119103252G;GMcArdle disease (also known as glycogen storage disease type V)Very important
- rs119103253T;TMcArdle disease (also known as glycogen storage disease type V)Very important
- rs119103254G;GMcArdle disease (also known as glycogen storage disease type V)Very important
- rs119103255A;AMcArdle disease (also known as glycogen storage disease type V)Very important
- rs119103256C;CMcArdle disease (also known as glycogen storage disease type V)Very important
- rs119103257A;AMcArdle disease (also known as glycogen storage disease type V)Very important
- rs119103258T;TMcArdle disease (also known as glycogen storage disease type V)Very important
Notes
From SNPedia
Notes
aka c.148C>T, p.Arg50Ter, R50* and R50X; previously referred to as R49X This (rare) mutation in the PYGM gene is generally considered to be the most frequent mutation leading to McArdle disease, a recessively inherited condition. 23andMe name: i5012656
A;G
Unaffected in absence of a second mutation in the PYGM gene
Source and license
Adapted from rs116987552 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.