rs515726233
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs515726233(G;T) |
| Make rs515726233(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 9 |
| Position | 136503288 |
| Gene | NOTCH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs515726233 |
| dbSNP (classic) | rs515726233 |
| ClinGen | rs515726233 |
| ebi | rs515726233 |
| HLI | rs515726233 |
| Exac | rs515726233 |
| Gnomad | rs515726233 |
| Varsome | rs515726233 |
| LitVar | rs515726233 |
| Map | rs515726233 |
| PheGenI | rs515726233 |
| Biobank | rs515726233 |
| 1000 genomes | rs515726233 |
| hgdp | rs515726233 |
| ensembl | rs515726233 |
| geneview | rs515726233 |
| scholar | rs515726233 |
| rs515726233 | |
| pharmgkb | rs515726233 |
| gwascentral | rs515726233 |
| openSNP | rs515726233 |
| 23andMe | rs515726233 |
| SNPshot | rs515726233 |
| SNPdbe | rs515726233 |
| MSV3d | rs515726233 |
| GWAS Ctlg | rs515726233 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs515726233(T;T) |
| Alt | rs515726233(T;T) |
| Reference | Rs515726233(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Heart |
| Variation | info |
| Gene | NOTCH1 |
| CLNDBN | Heart, malformation of |
| Reversed | 1 |
| HGVS | NC_000009.11:g.139397740C>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000128630.1, |
