rs2296949
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (G;G) | 0 |
| Make rs2296949(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 131510049 |
| Gene | POMT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2296949 |
| dbSNP (classic) | rs2296949 |
| ClinGen | rs2296949 |
| ebi | rs2296949 |
| HLI | rs2296949 |
| Exac | rs2296949 |
| Gnomad | rs2296949 |
| Varsome | rs2296949 |
| LitVar | rs2296949 |
| Map | rs2296949 |
| PheGenI | rs2296949 |
| Biobank | rs2296949 |
| 1000 genomes | rs2296949 |
| hgdp | rs2296949 |
| ensembl | rs2296949 |
| geneview | rs2296949 |
| scholar | rs2296949 |
| rs2296949 | |
| pharmgkb | rs2296949 |
| gwascentral | rs2296949 |
| openSNP | rs2296949 |
| 23andMe | rs2296949 |
| SNPshot | rs2296949 |
| SNPdbe | rs2296949 |
| MSV3d | rs2296949 |
| GWAS Ctlg | rs2296949 |
| GMAF | 0.1341 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs2296949(G;G) |
| Alt | Rs2296949(G;G) |
| Reference | Rs2296949(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | POMT1 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000009.11:g.134385436A\x3d; NC_000009.11:g.134385436A>G |
| CLNSRC | ClinVar Emory University |
| CLNACC | RCV000081493.5, RCV000216907.1, |
