rs386834235
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;T) | 3 | Carrier of a glycogen storage disease II mutation |
| (T;T) | 0 | common in clinvar |
| Make rs386834235(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 80105111 |
| Gene | GAA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386834235 |
| dbSNP (classic) | rs386834235 |
| ClinGen | rs386834235 |
| ebi | rs386834235 |
| HLI | rs386834235 |
| Exac | rs386834235 |
| Gnomad | rs386834235 |
| Varsome | rs386834235 |
| LitVar | rs386834235 |
| Map | rs386834235 |
| PheGenI | rs386834235 |
| Biobank | rs386834235 |
| 1000 genomes | rs386834235 |
| hgdp | rs386834235 |
| ensembl | rs386834235 |
| geneview | rs386834235 |
| scholar | rs386834235 |
| rs386834235 | |
| pharmgkb | rs386834235 |
| gwascentral | rs386834235 |
| openSNP | rs386834235 |
| 23andMe | rs386834235 |
| SNPshot | rs386834235 |
| SNPdbe | rs386834235 |
| MSV3d | rs386834235 |
| GWAS Ctlg | rs386834235 |
| Max Magnitude | 3 |
aka c.525delT (p.Glu176Argfs)
| ClinVar | |
|---|---|
| Risk | rs386834235(-;-) |
| Alt | rs386834235(-;-) |
| Reference | Rs386834235(T;T) |
| Significance | Pathogenic |
| Disease | Glycogen storage disease not provided |
| Variation | info |
| Gene | GAA |
| CLNDBN | Glycogen storage disease, type II not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.78078910delT |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000004248.6, RCV000078181.3, |
