rs864622161
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5.5 | Neurofibromatosis type 1 |
| (G;G) | 0 | common in clinvar |
| Make rs864622161(A;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 31201160 |
| Gene | NF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs864622161 |
| dbSNP (classic) | rs864622161 |
| ClinGen | rs864622161 |
| ebi | rs864622161 |
| HLI | rs864622161 |
| Exac | rs864622161 |
| Gnomad | rs864622161 |
| Varsome | rs864622161 |
| LitVar | rs864622161 |
| Map | rs864622161 |
| PheGenI | rs864622161 |
| Biobank | rs864622161 |
| 1000 genomes | rs864622161 |
| hgdp | rs864622161 |
| ensembl | rs864622161 |
| geneview | rs864622161 |
| scholar | rs864622161 |
| rs864622161 | |
| pharmgkb | rs864622161 |
| gwascentral | rs864622161 |
| openSNP | rs864622161 |
| 23andMe | rs864622161 |
| SNPshot | rs864622161 |
| SNPdbe | rs864622161 |
| MSV3d | rs864622161 |
| GWAS Ctlg | rs864622161 |
| Max Magnitude | 5.5 |
aka c.1185+1G>A
23andMe name: i723189
| ClinVar | |
|---|---|
| Risk | rs864622161(A;A) |
| Alt | rs864622161(A;A) |
| Reference | Rs864622161(G;G) |
| Significance | Pathogenic |
| Disease | Neurofibromatosis |
| Variation | info |
| Gene | NF1 |
| CLNDBN | Neurofibromatosis, type 1 |
| Reversed | 0 |
| HGVS | NC_000017.10:g.29528178G>A |
| CLNSRC | |
| CLNACC | RCV000204498.2, |
