rs759130031
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs759130031(C;T) |
| Make rs759130031(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 11 |
| Position | 94476288 |
| Gene | MRE11A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs759130031 |
| dbSNP (classic) | rs759130031 |
| ClinGen | rs759130031 |
| ebi | rs759130031 |
| HLI | rs759130031 |
| Exac | rs759130031 |
| Gnomad | rs759130031 |
| Varsome | rs759130031 |
| LitVar | rs759130031 |
| Map | rs759130031 |
| PheGenI | rs759130031 |
| Biobank | rs759130031 |
| 1000 genomes | rs759130031 |
| hgdp | rs759130031 |
| ensembl | rs759130031 |
| geneview | rs759130031 |
| scholar | rs759130031 |
| rs759130031 | |
| pharmgkb | rs759130031 |
| gwascentral | rs759130031 |
| openSNP | rs759130031 |
| 23andMe | rs759130031 |
| SNPshot | rs759130031 |
| SNPdbe | rs759130031 |
| MSV3d | rs759130031 |
| GWAS Ctlg | rs759130031 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs759130031(T;T) |
| Alt | rs759130031(T;T) |
| Reference | Rs759130031(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia-like disorder 1 |
| Variation | info |
| Gene | MRE11A |
| CLNDBN | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia-like disorder 1 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.94209454C>T |
| CLNSRC | |
| CLNACC | RCV000217276.1, RCV000410656.1, |
