rs749244650
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs749244650(A;A) |
| Make rs749244650(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 127682465 |
| Gene | STXBP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs749244650 |
| dbSNP (classic) | rs749244650 |
| ClinGen | rs749244650 |
| ebi | rs749244650 |
| HLI | rs749244650 |
| Exac | rs749244650 |
| Gnomad | rs749244650 |
| Varsome | rs749244650 |
| LitVar | rs749244650 |
| Map | rs749244650 |
| PheGenI | rs749244650 |
| Biobank | rs749244650 |
| 1000 genomes | rs749244650 |
| hgdp | rs749244650 |
| ensembl | rs749244650 |
| geneview | rs749244650 |
| scholar | rs749244650 |
| rs749244650 | |
| pharmgkb | rs749244650 |
| gwascentral | rs749244650 |
| openSNP | rs749244650 |
| 23andMe | rs749244650 |
| SNPshot | rs749244650 |
| SNPdbe | rs749244650 |
| MSV3d | rs749244650 |
| GWAS Ctlg | rs749244650 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs749244650(A;A) |
| Alt | rs749244650(A;A) |
| Reference | Rs749244650(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | STXBP1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.130444744G>A |
| CLNSRC | |
| CLNACC | RCV000189621.1, |
