rs587784299
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs587784299(A;T) |
| Make rs587784299(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | X |
| Position | 100407903 |
| Gene | PCDH19 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587784299 |
| dbSNP (classic) | rs587784299 |
| ClinGen | rs587784299 |
| ebi | rs587784299 |
| HLI | rs587784299 |
| Exac | rs587784299 |
| Gnomad | rs587784299 |
| Varsome | rs587784299 |
| LitVar | rs587784299 |
| Map | rs587784299 |
| PheGenI | rs587784299 |
| Biobank | rs587784299 |
| 1000 genomes | rs587784299 |
| hgdp | rs587784299 |
| ensembl | rs587784299 |
| geneview | rs587784299 |
| scholar | rs587784299 |
| rs587784299 | |
| pharmgkb | rs587784299 |
| gwascentral | rs587784299 |
| openSNP | rs587784299 |
| 23andMe | rs587784299 |
| SNPshot | rs587784299 |
| SNPdbe | rs587784299 |
| MSV3d | rs587784299 |
| GWAS Ctlg | rs587784299 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs587784299(G;G) rs587784299(T;T) |
| Alt | rs587784299(G;G) rs587784299(T;T) |
| Reference | Rs587784299(A;A) |
| Significance | Pathogenic |
| Disease | Early infantile epileptic encephalopathy 9 not provided |
| Variation | info |
| Gene | PCDH19 |
| CLNDBN | Early infantile epileptic encephalopathy 9 not provided |
| Reversed | 1 |
| HGVS | NC_000023.10:g.99662901T>A; NC_000023.10:g.99662901T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000147084.1, RCV000188357.2, |
