rs200287925
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs200287925(A;A) |
| Make rs200287925(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 8 |
| Position | 89982766 |
| Gene | NBN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200287925 |
| dbSNP (classic) | rs200287925 |
| ClinGen | rs200287925 |
| ebi | rs200287925 |
| HLI | rs200287925 |
| Exac | rs200287925 |
| Gnomad | rs200287925 |
| Varsome | rs200287925 |
| LitVar | rs200287925 |
| Map | rs200287925 |
| PheGenI | rs200287925 |
| Biobank | rs200287925 |
| 1000 genomes | rs200287925 |
| hgdp | rs200287925 |
| ensembl | rs200287925 |
| geneview | rs200287925 |
| scholar | rs200287925 |
| rs200287925 | |
| pharmgkb | rs200287925 |
| gwascentral | rs200287925 |
| openSNP | rs200287925 |
| 23andMe | rs200287925 |
| SNPshot | rs200287925 |
| SNPdbe | rs200287925 |
| MSV3d | rs200287925 |
| GWAS Ctlg | rs200287925 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200287925(A;A) |
| Alt | rs200287925(A;A) |
| Reference | Rs200287925(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Microcephaly not provided |
| Variation | info |
| Gene | NBN |
| CLNDBN | Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not provided |
| Reversed | 0 |
| HGVS | NC_000008.10:g.90994994G>A |
| CLNSRC | Ambry Genetics ClinVar |
| CLNACC | RCV000131193.3, RCV000409406.1, RCV000489509.1, |
