rs28939712
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | carrier of familial dysautonomia mutation |
| (T;T) | 7.7 | Familial dysautonomia |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 108894062 |
| Gene | IKBKAP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28939712 |
| dbSNP (classic) | rs28939712 |
| ClinGen | rs28939712 |
| ebi | rs28939712 |
| HLI | rs28939712 |
| Exac | rs28939712 |
| Gnomad | rs28939712 |
| Varsome | rs28939712 |
| LitVar | rs28939712 |
| Map | rs28939712 |
| PheGenI | rs28939712 |
| Biobank | rs28939712 |
| 1000 genomes | rs28939712 |
| hgdp | rs28939712 |
| ensembl | rs28939712 |
| geneview | rs28939712 |
| scholar | rs28939712 |
| rs28939712 | |
| pharmgkb | rs28939712 |
| gwascentral | rs28939712 |
| openSNP | rs28939712 |
| 23andMe | rs28939712 |
| SNPshot | rs28939712 |
| SNPdbe | rs28939712 |
| MSV3d | rs28939712 |
| GWAS Ctlg | rs28939712 |
| Max Magnitude | 7.7 |
aka c.2741C>T, p.Pro914Leu, P914L
| ClinVar | |
|---|---|
| Risk | Rs28939712(T;T) |
| Alt | Rs28939712(T;T) |
| Reference | Rs28939712(C;C) |
| Significance | Pathogenic |
| Disease | Familial dysautonomia |
| Variation | info |
| Gene | IKBKAP |
| CLNDBN | Familial dysautonomia |
| Reversed | 1 |
| HGVS | NC_000009.11:g.111656342G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006460.2, |
