rs397507510
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs397507510(C;C) |
| Make rs397507510(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 112450361 |
| Gene | PTPN11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397507510 |
| dbSNP (classic) | rs397507510 |
| ClinGen | rs397507510 |
| ebi | rs397507510 |
| HLI | rs397507510 |
| Exac | rs397507510 |
| Gnomad | rs397507510 |
| Varsome | rs397507510 |
| LitVar | rs397507510 |
| Map | rs397507510 |
| PheGenI | rs397507510 |
| Biobank | rs397507510 |
| 1000 genomes | rs397507510 |
| hgdp | rs397507510 |
| ensembl | rs397507510 |
| geneview | rs397507510 |
| scholar | rs397507510 |
| rs397507510 | |
| pharmgkb | rs397507510 |
| gwascentral | rs397507510 |
| openSNP | rs397507510 |
| 23andMe | rs397507510 |
| SNPshot | rs397507510 |
| SNPdbe | rs397507510 |
| MSV3d | rs397507510 |
| GWAS Ctlg | rs397507510 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397507510(A;A) rs397507510(C;C) rs397507510(T;T) |
| Alt | rs397507510(A;A) rs397507510(C;C) rs397507510(T;T) |
| Reference | Rs397507510(G;G) |
| Significance | Pathogenic |
| Disease | Rasopathy not provided Juvenile myelomonocytic leukemia |
| Variation | info |
| Gene | PTPN11 |
| CLNDBN | Rasopathy not provided Juvenile myelomonocytic leukemia |
| Reversed | 0 |
| HGVS | NC_000012.11:g.112888165G>A; NC_000012.11:g.112888165G>C; NC_000012.11:g.112888165G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000033463.5, RCV000157678.1, RCV000033462.4, RCV000215649.1, |
