rs17853166
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | Normal |
| Make rs17853166(C;C) |
| Make rs17853166(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 108917660 |
| Gene | IKBKAP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17853166 |
| dbSNP (classic) | rs17853166 |
| ClinGen | rs17853166 |
| ebi | rs17853166 |
| HLI | rs17853166 |
| Exac | rs17853166 |
| Gnomad | rs17853166 |
| Varsome | rs17853166 |
| LitVar | rs17853166 |
| Map | rs17853166 |
| PheGenI | rs17853166 |
| Biobank | rs17853166 |
| 1000 genomes | rs17853166 |
| hgdp | rs17853166 |
| ensembl | rs17853166 |
| geneview | rs17853166 |
| scholar | rs17853166 |
| rs17853166 | |
| pharmgkb | rs17853166 |
| gwascentral | rs17853166 |
| openSNP | rs17853166 |
| 23andMe | rs17853166 |
| SNPshot | rs17853166 |
| SNPdbe | rs17853166 |
| MSV3d | rs17853166 |
| GWAS Ctlg | rs17853166 |
| GMAF | 0.01102 |
| Max Magnitude | 0 |
Variant of Unknown Significance
| ? | (C;T) (T;T) | |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs17853166(C;C) |
| Alt | rs17853166(C;C) |
| Reference | Rs17853166(T;T) |
| Significance | Other |
| Disease | not specified Familial dysautonomia |
| Variation | info |
| Gene | IKBKAP |
| CLNDBN | not specified Familial dysautonomia |
| Reversed | 0 |
| HGVS | NC_000009.11:g.111679940T>C |
| CLNSRC | ClinVar GeneDx |
| CLNACC | RCV000125396.1, RCV000353935.1, |
