rs1805129
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs1805129(A;G) |
| Make rs1805129(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 28734470 |
| Gene | CHEK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805129 |
| dbSNP (classic) | rs1805129 |
| ClinGen | rs1805129 |
| ebi | rs1805129 |
| HLI | rs1805129 |
| Exac | rs1805129 |
| Gnomad | rs1805129 |
| Varsome | rs1805129 |
| LitVar | rs1805129 |
| Map | rs1805129 |
| PheGenI | rs1805129 |
| Biobank | rs1805129 |
| 1000 genomes | rs1805129 |
| hgdp | rs1805129 |
| ensembl | rs1805129 |
| geneview | rs1805129 |
| scholar | rs1805129 |
| rs1805129 | |
| pharmgkb | rs1805129 |
| gwascentral | rs1805129 |
| openSNP | rs1805129 |
| 23andMe | rs1805129 |
| SNPshot | rs1805129 |
| SNPdbe | rs1805129 |
| MSV3d | rs1805129 |
| GWAS Ctlg | rs1805129 |
| GMAF | 0.04362 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
This SNP represents a silent polymorphism in the cancer-associated cell cycle regulator CHEK2 gene.
| ClinVar | |
|---|---|
| Risk | rs1805129(G;G) |
| Alt | rs1805129(G;G) |
| Reference | Rs1805129(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Hereditary cancer-predisposing syndrome not specified Colorectal cancer Neoplasm of breast Familial cancer of breast |
| Variation | info |
| Gene | CHEK2 |
| CLNDBN | Hereditary cancer-predisposing syndrome not specified Colorectal cancer Neoplasm of breast Familial cancer of breast |
| Reversed | 1 |
| HGVS | NC_000022.10:g.29130458T>C |
| CLNSRC | Ambry Genetics ClinVar |
| CLNACC | RCV000130990.2, RCV000248875.1, RCV000340140.1, RCV000391347.1, RCV000412125.1, |
