rs3218707
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs3218707(C;C) |
| Make rs3218707(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 108244000 |
| Gene | ATM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3218707 |
| dbSNP (classic) | rs3218707 |
| ClinGen | rs3218707 |
| ebi | rs3218707 |
| HLI | rs3218707 |
| Exac | rs3218707 |
| Gnomad | rs3218707 |
| Varsome | rs3218707 |
| LitVar | rs3218707 |
| Map | rs3218707 |
| PheGenI | rs3218707 |
| Biobank | rs3218707 |
| 1000 genomes | rs3218707 |
| hgdp | rs3218707 |
| ensembl | rs3218707 |
| geneview | rs3218707 |
| scholar | rs3218707 |
| rs3218707 | |
| pharmgkb | rs3218707 |
| gwascentral | rs3218707 |
| openSNP | rs3218707 |
| 23andMe | rs3218707 |
| SNPshot | rs3218707 |
| SNPdbe | rs3218707 |
| MSV3d | rs3218707 |
| GWAS Ctlg | rs3218707 |
| GMAF | 0.0124 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
This SNP, a variant in the ATM gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]
For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.
For this particular SNP, the risk (minor) allele is (C).
| ClinVar | |
|---|---|
| Risk | rs3218707(C;C) |
| Alt | rs3218707(C;C) |
| Reference | Rs3218707(G;G) |
| Significance | Other |
| Disease | Ataxia-telangiectasia syndrome not specified Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | ATM |
| CLNDBN | Ataxia-telangiectasia syndrome not specified Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.108114727G>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000119106.6, RCV000120166.2, RCV000131001.5, RCV000223988.1, |
