rs150433001
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs150433001(G;G) |
| Make rs150433001(G;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 21542588 |
| Gene | GYS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs150433001 |
| dbSNP (classic) | rs150433001 |
| ClinGen | rs150433001 |
| ebi | rs150433001 |
| HLI | rs150433001 |
| Exac | rs150433001 |
| Gnomad | rs150433001 |
| Varsome | rs150433001 |
| LitVar | rs150433001 |
| Map | rs150433001 |
| PheGenI | rs150433001 |
| Biobank | rs150433001 |
| 1000 genomes | rs150433001 |
| hgdp | rs150433001 |
| ensembl | rs150433001 |
| geneview | rs150433001 |
| scholar | rs150433001 |
| rs150433001 | |
| pharmgkb | rs150433001 |
| gwascentral | rs150433001 |
| openSNP | rs150433001 |
| 23andMe | rs150433001 |
| SNPshot | rs150433001 |
| SNPdbe | rs150433001 |
| MSV3d | rs150433001 |
| GWAS Ctlg | rs150433001 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs150433001(G;G) |
| Alt | rs150433001(G;G) |
| Reference | Rs150433001(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Hypoglycemia with deficiency of glycogen synthetase in the liver |
| Variation | info |
| Gene | GYS2 |
| CLNDBN | Hypoglycemia with deficiency of glycogen synthetase in the liver |
| Reversed | 0 |
| HGVS | NC_000012.11:g.21695522T>G |
| CLNSRC | |
| CLNACC | RCV000375881.1, |
