rs77938727
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs77938727(C;T) |
| Make rs77938727(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 44065240 |
| Gene | PGAM2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77938727 |
| dbSNP (classic) | rs77938727 |
| ClinGen | rs77938727 |
| ebi | rs77938727 |
| HLI | rs77938727 |
| Exac | rs77938727 |
| Gnomad | rs77938727 |
| Varsome | rs77938727 |
| LitVar | rs77938727 |
| Map | rs77938727 |
| PheGenI | rs77938727 |
| Biobank | rs77938727 |
| 1000 genomes | rs77938727 |
| hgdp | rs77938727 |
| ensembl | rs77938727 |
| geneview | rs77938727 |
| scholar | rs77938727 |
| rs77938727 | |
| pharmgkb | rs77938727 |
| gwascentral | rs77938727 |
| openSNP | rs77938727 |
| 23andMe | rs77938727 |
| SNPshot | rs77938727 |
| SNPdbe | rs77938727 |
| MSV3d | rs77938727 |
| GWAS Ctlg | rs77938727 |
| GMAF | 0.003673 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs77938727(T;T) |
| Alt | rs77938727(T;T) |
| Reference | Rs77938727(C;C) |
| Significance | Other |
| Disease | Glycogen storage disease type X |
| Variation | info |
| Gene | PGAM2 |
| CLNDBN | Glycogen storage disease type X |
| Reversed | 0 |
| HGVS | NC_000007.13:g.44104839C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000449.2, |
