rs199474762
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs199474762(C;C) |
| Make rs199474762(C;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 17 |
| Position | 31227254 |
| Gene | NF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199474762 |
| dbSNP (classic) | rs199474762 |
| ClinGen | rs199474762 |
| ebi | rs199474762 |
| HLI | rs199474762 |
| Exac | rs199474762 |
| Gnomad | rs199474762 |
| Varsome | rs199474762 |
| LitVar | rs199474762 |
| Map | rs199474762 |
| PheGenI | rs199474762 |
| Biobank | rs199474762 |
| 1000 genomes | rs199474762 |
| hgdp | rs199474762 |
| ensembl | rs199474762 |
| geneview | rs199474762 |
| scholar | rs199474762 |
| rs199474762 | |
| pharmgkb | rs199474762 |
| gwascentral | rs199474762 |
| openSNP | rs199474762 |
| 23andMe | rs199474762 |
| SNPshot | rs199474762 |
| SNPdbe | rs199474762 |
| MSV3d | rs199474762 |
| GWAS Ctlg | rs199474762 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199474762(C;C) rs199474762(G;G) |
| Alt | rs199474762(C;C) rs199474762(G;G) |
| Reference | Rs199474762(T;T) |
| Significance | Pathogenic |
| Disease | not provided Hereditary cancer-predisposing syndrome Neurofibromatosis |
| Variation | info |
| Gene | NF1 |
| CLNDBN | not provided Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 |
| Reversed | 0 |
| HGVS | NC_000017.10:g.29554272T>C; NC_000017.10:g.29554272T>G |
| CLNSRC | UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000059164.1, RCV000165288.2, RCV000220933.1, RCV000196515.1, RCV000222376.1, |
