rs886039903
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs886039903(A;A) |
| Make rs886039903(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 3 |
| Position | 192335434 |
| Gene | FGF12 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886039903 |
| dbSNP (classic) | rs886039903 |
| ClinGen | rs886039903 |
| ebi | rs886039903 |
| HLI | rs886039903 |
| Exac | rs886039903 |
| Gnomad | rs886039903 |
| Varsome | rs886039903 |
| LitVar | rs886039903 |
| Map | rs886039903 |
| PheGenI | rs886039903 |
| Biobank | rs886039903 |
| 1000 genomes | rs886039903 |
| hgdp | rs886039903 |
| ensembl | rs886039903 |
| geneview | rs886039903 |
| scholar | rs886039903 |
| rs886039903 | |
| pharmgkb | rs886039903 |
| gwascentral | rs886039903 |
| openSNP | rs886039903 |
| 23andMe | rs886039903 |
| SNPshot | rs886039903 |
| SNPdbe | rs886039903 |
| MSV3d | rs886039903 |
| GWAS Ctlg | rs886039903 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886039903(A;A) |
| Alt | rs886039903(A;A) |
| Reference | Rs886039903(G;G) |
| Significance | Pathogenic |
| Disease | Epileptic encephalopathy |
| Variation | info |
| Gene | FGF12 |
| CLNDBN | Epileptic encephalopathy, early infantile, 47 |
| Reversed | 1 |
| HGVS | NC_000003.11:g.192053223C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000258032.3, |
