rs199907548
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 7 | Pancreatic cancer/Melanoma Syndrome |
| Make rs199907548(A;G) |
| Make rs199907548(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 9 |
| Position | 21974682 |
| Gene | CDKN2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199907548 |
| dbSNP (classic) | rs199907548 |
| ClinGen | rs199907548 |
| ebi | rs199907548 |
| HLI | rs199907548 |
| Exac | rs199907548 |
| Gnomad | rs199907548 |
| Varsome | rs199907548 |
| LitVar | rs199907548 |
| Map | rs199907548 |
| PheGenI | rs199907548 |
| Biobank | rs199907548 |
| 1000 genomes | rs199907548 |
| hgdp | rs199907548 |
| ensembl | rs199907548 |
| geneview | rs199907548 |
| scholar | rs199907548 |
| rs199907548 | |
| pharmgkb | rs199907548 |
| gwascentral | rs199907548 |
| openSNP | rs199907548 |
| 23andMe | rs199907548 |
| SNPshot | rs199907548 |
| SNPdbe | rs199907548 |
| MSV3d | rs199907548 |
| GWAS Ctlg | rs199907548 |
| Max Magnitude | 7 |
| ClinVar | |
|---|---|
| Risk | rs199907548(G;G) |
| Alt | rs199907548(G;G) |
| Reference | Rs199907548(A;A) |
| Significance | Probable-Pathogenic |
| Disease | not provided Hereditary cancer-predisposing syndrome Hereditary cutaneous melanoma not specified Melanoma-pancreatic cancer syndrome |
| Variation | info |
| Gene | CDKN2A |
| CLNDBN | not provided Hereditary cancer-predisposing syndrome Hereditary cutaneous melanoma not specified Melanoma-pancreatic cancer syndrome |
| Reversed | 0 |
| HGVS | NC_000009.11:g.21974681A>C; NC_000009.11:g.21974681A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000493292.1, RCV000115331.7, RCV000122945.5, RCV000212398.2, RCV000412396.1, |
