rs864622090
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs864622090(A;T) |
| Make rs864622090(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 8 |
| Position | 89964509 |
| Gene | NBN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs864622090 |
| dbSNP (classic) | rs864622090 |
| ClinGen | rs864622090 |
| ebi | rs864622090 |
| HLI | rs864622090 |
| Exac | rs864622090 |
| Gnomad | rs864622090 |
| Varsome | rs864622090 |
| LitVar | rs864622090 |
| Map | rs864622090 |
| PheGenI | rs864622090 |
| Biobank | rs864622090 |
| 1000 genomes | rs864622090 |
| hgdp | rs864622090 |
| ensembl | rs864622090 |
| geneview | rs864622090 |
| scholar | rs864622090 |
| rs864622090 | |
| pharmgkb | rs864622090 |
| gwascentral | rs864622090 |
| openSNP | rs864622090 |
| 23andMe | rs864622090 |
| SNPshot | rs864622090 |
| SNPdbe | rs864622090 |
| MSV3d | rs864622090 |
| GWAS Ctlg | rs864622090 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs864622090(T;T) |
| Alt | rs864622090(T;T) |
| Reference | Rs864622090(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Microcephaly Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | NBN |
| CLNDBN | Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000008.10:g.90976737T>A |
| CLNSRC | |
| CLNACC | RCV000204744.1, RCV000222760.1, |
