rs761562076
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs761562076(A;A) |
| Make rs761562076(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 9 |
| Position | 136497146 |
| Gene | NOTCH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs761562076 |
| dbSNP (classic) | rs761562076 |
| ClinGen | rs761562076 |
| ebi | rs761562076 |
| HLI | rs761562076 |
| Exac | rs761562076 |
| Gnomad | rs761562076 |
| Varsome | rs761562076 |
| LitVar | rs761562076 |
| Map | rs761562076 |
| PheGenI | rs761562076 |
| Biobank | rs761562076 |
| 1000 genomes | rs761562076 |
| hgdp | rs761562076 |
| ensembl | rs761562076 |
| geneview | rs761562076 |
| scholar | rs761562076 |
| rs761562076 | |
| pharmgkb | rs761562076 |
| gwascentral | rs761562076 |
| openSNP | rs761562076 |
| 23andMe | rs761562076 |
| SNPshot | rs761562076 |
| SNPdbe | rs761562076 |
| MSV3d | rs761562076 |
| GWAS Ctlg | rs761562076 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs761562076(A;A) rs761562076(T;T) |
| Alt | rs761562076(A;A) rs761562076(T;T) |
| Reference | Rs761562076(G;G) |
| Significance | Pathogenic |
| Disease | Adams-Oliver syndrome 5 not provided |
| Variation | info |
| Gene | NOTCH1 |
| CLNDBN | Adams-Oliver syndrome 5 not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.139391598G>A; NC_000009.11:g.139391598G>T |
| CLNSRC | |
| CLNACC | RCV000227496.1, RCV000489297.1, |
