rs2306180
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs2306180(C;C) |
| Make rs2306180(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 21560468 |
| Gene | GYS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2306180 |
| dbSNP (classic) | rs2306180 |
| ClinGen | rs2306180 |
| ebi | rs2306180 |
| HLI | rs2306180 |
| Exac | rs2306180 |
| Gnomad | rs2306180 |
| Varsome | rs2306180 |
| LitVar | rs2306180 |
| Map | rs2306180 |
| PheGenI | rs2306180 |
| Biobank | rs2306180 |
| 1000 genomes | rs2306180 |
| hgdp | rs2306180 |
| ensembl | rs2306180 |
| geneview | rs2306180 |
| scholar | rs2306180 |
| rs2306180 | |
| pharmgkb | rs2306180 |
| gwascentral | rs2306180 |
| openSNP | rs2306180 |
| 23andMe | rs2306180 |
| SNPshot | rs2306180 |
| SNPdbe | rs2306180 |
| MSV3d | rs2306180 |
| GWAS Ctlg | rs2306180 |
| GMAF | 0.2479 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2306180(C;C) |
| Alt | rs2306180(C;C) |
| Reference | Rs2306180(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Hypoglycemia with deficiency of glycogen synthetase in the liver |
| Variation | info |
| Gene | GYS2 |
| CLNDBN | not specified Hypoglycemia with deficiency of glycogen synthetase in the liver |
| Reversed | 0 |
| HGVS | NC_000012.11:g.21713402T>C |
| CLNSRC | |
| CLNACC | RCV000242605.1, RCV000297841.1, |
