rs764313717
A SNP in the PYGM gene on chromosome 11. Its most notable genotype is C;C: McArdle disease, mild form (also known as glycogen storage disease type V)
- Gene
- PYGM
- Location
- Chr 1164,758,375 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadMcArdle disease, mild form (also known as glycogen storage disease type V)
- C;TBadCarrier of a McArdle disease mutation (mild form)
- T;TGoodcommon in clinvar
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other PYGM SNPs
- rs116987552A;AMcArdle disease (also known as glycogen storage disease type V)Very important
- 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
Notes
From SNPedia
Notes
PYGM gene, c.425_528del; this is a splice site mutation resulting in an abnormally spliced protein (lacking exon 4)
C;T
Unaffected in absence of a second mutation in the PYGM gene
Source and license
Adapted from rs764313717 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.