rs10250779
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (T;T) | 2 | possible exercise-inducing cramping in African-Americans |
| Make rs10250779(A;A) |
| Make rs10250779(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 7 |
| Position | 44065297 |
| Gene | PGAM2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10250779 |
| dbSNP (classic) | rs10250779 |
| ClinGen | rs10250779 |
| ebi | rs10250779 |
| HLI | rs10250779 |
| Exac | rs10250779 |
| Gnomad | rs10250779 |
| Varsome | rs10250779 |
| LitVar | rs10250779 |
| Map | rs10250779 |
| PheGenI | rs10250779 |
| Biobank | rs10250779 |
| 1000 genomes | rs10250779 |
| hgdp | rs10250779 |
| ensembl | rs10250779 |
| geneview | rs10250779 |
| scholar | rs10250779 |
| rs10250779 | |
| pharmgkb | rs10250779 |
| gwascentral | rs10250779 |
| openSNP | rs10250779 |
| 23andMe | rs10250779 |
| SNPshot | rs10250779 |
| SNPdbe | rs10250779 |
| MSV3d | rs10250779 |
| GWAS Ctlg | rs10250779 |
| GMAF | 0.001837 |
| Max Magnitude | 2 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
Several African-American rs10250779(T;T) homozygotes (as oriented in dbSNP) have been reported to experience intense muscle pain and cramps upon exercising. It is not known what percentage of such homozgyotes respond to exercise in this manner.[PMID 8447317
]
| ClinVar | |
|---|---|
| Risk | rs10250779(A;A) rs10250779(C;C) |
| Alt | rs10250779(A;A) rs10250779(C;C) |
| Reference | Rs10250779(G;G) |
| Significance | Pathogenic |
| Disease | Glycogen storage disease type X not provided |
| Variation | info |
| Gene | PGAM2 |
| CLNDBN | Glycogen storage disease type X not provided |
| Reversed | 1 |
| HGVS | NC_000007.13:g.44104896C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000446.2, RCV000493394.1, |
[PMID 18852891] Distribution and effects of nonsense polymorphisms in human genes.
