rs763445509
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs763445509(-;C) |
| Make rs763445509(C;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 9 |
| Position | 108900313 |
| Gene | IKBKAP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs763445509 |
| dbSNP (classic) | rs763445509 |
| ClinGen | rs763445509 |
| ebi | rs763445509 |
| HLI | rs763445509 |
| Exac | rs763445509 |
| Gnomad | rs763445509 |
| Varsome | rs763445509 |
| LitVar | rs763445509 |
| Map | rs763445509 |
| PheGenI | rs763445509 |
| Biobank | rs763445509 |
| 1000 genomes | rs763445509 |
| hgdp | rs763445509 |
| ensembl | rs763445509 |
| geneview | rs763445509 |
| scholar | rs763445509 |
| rs763445509 | |
| pharmgkb | rs763445509 |
| gwascentral | rs763445509 |
| openSNP | rs763445509 |
| 23andMe | rs763445509 |
| SNPshot | rs763445509 |
| SNPdbe | rs763445509 |
| MSV3d | rs763445509 |
| GWAS Ctlg | rs763445509 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs763445509(C;C) |
| Alt | rs763445509(C;C) |
| Reference | Rs763445509(-;-) |
| Significance | Probable-Pathogenic |
| Disease | Familial dysautonomia |
| Variation | info |
| Gene | IKBKAP |
| CLNDBN | Familial dysautonomia |
| Reversed | 0 |
| HGVS | NC_000009.11:g.111662594dupC |
| CLNSRC | |
| CLNACC | RCV000412398.1, |
