rs1057519943
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1057519943(C;G) |
| Make rs1057519943(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 12 |
| Position | 132676598 |
| Gene | POLE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1057519943 |
| dbSNP (classic) | rs1057519943 |
| ClinGen | rs1057519943 |
| ebi | rs1057519943 |
| HLI | rs1057519943 |
| Exac | rs1057519943 |
| Gnomad | rs1057519943 |
| Varsome | rs1057519943 |
| LitVar | rs1057519943 |
| Map | rs1057519943 |
| PheGenI | rs1057519943 |
| Biobank | rs1057519943 |
| 1000 genomes | rs1057519943 |
| hgdp | rs1057519943 |
| ensembl | rs1057519943 |
| geneview | rs1057519943 |
| scholar | rs1057519943 |
| rs1057519943 | |
| pharmgkb | rs1057519943 |
| gwascentral | rs1057519943 |
| openSNP | rs1057519943 |
| 23andMe | rs1057519943 |
| SNPshot | rs1057519943 |
| SNPdbe | rs1057519943 |
| MSV3d | rs1057519943 |
| GWAS Ctlg | rs1057519943 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1057519943(A;A) rs1057519943(G;G) |
| Alt | rs1057519943(A;A) rs1057519943(G;G) |
| Reference | Rs1057519943(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Pancreatic adenocarcinoma Neoplasm of breast Colorectal Neoplasms Malignant neoplasm of body of uterus Uterine Carcinosarcoma |
| Variation | info |
| Gene | POLE |
| CLNDBN | Pancreatic adenocarcinoma Neoplasm of breast Colorectal Neoplasms Malignant neoplasm of body of uterus Uterine Carcinosarcoma |
| Reversed | 1 |
| HGVS | NC_000012.11:g.133253184G>C; NC_000012.11:g.133253184G>T |
| CLNSRC | |
| CLNACC | RCV000426701.1, RCV000427424.1, RCV000437655.1, RCV000443524.1, RCV000443610.1, RCV000417898.1, RCV000428131.1, RCV000428894.1, RCV000438366.1, RCV000439138.1, |
