rs587776869
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs587776869(-;GCGGCGGCCGCGGCCGCGGCTGCCGCG) |
| Make rs587776869(GCGGCGGCCGCGGCCGCGGCTGCCGCG;GCGGCGGCCGCGGCCGCGGCTGCCGCG) |
| Reference | GRCh38 38.1/142 |
| Chromosome | X |
| Position | 25013560 |
| Gene | ARX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776869 |
| dbSNP (classic) | rs587776869 |
| ClinGen | rs587776869 |
| ebi | rs587776869 |
| HLI | rs587776869 |
| Exac | rs587776869 |
| Gnomad | rs587776869 |
| Varsome | rs587776869 |
| LitVar | rs587776869 |
| Map | rs587776869 |
| PheGenI | rs587776869 |
| Biobank | rs587776869 |
| 1000 genomes | rs587776869 |
| hgdp | rs587776869 |
| ensembl | rs587776869 |
| geneview | rs587776869 |
| scholar | rs587776869 |
| rs587776869 | |
| pharmgkb | rs587776869 |
| gwascentral | rs587776869 |
| openSNP | rs587776869 |
| 23andMe | rs587776869 |
| SNPshot | rs587776869 |
| SNPdbe | rs587776869 |
| MSV3d | rs587776869 |
| GWAS Ctlg | rs587776869 |
| Merged from | Rs797045299 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs587776869(GCGGCGGCCGCGGCCGCGGCTGCCGCG;GCGGCGGCCGCGGCCGCGGCTGCCGCG) rs587776869(GCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT;GCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT) |
| Alt | rs587776869(GCGGCGGCCGCGGCCGCGGCTGCCGCG;GCGGCGGCCGCGGCCGCGGCTGCCGCG) rs587776869(GCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT;GCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT) |
| Reference | Rs587776869(-;-) |
| Significance | Pathogenic |
| Disease | Epileptic encephalopathy Lissencephaly 2 |
| Variation | info |
| Gene | ARX |
| CLNDBN | Epileptic encephalopathy, early infantile, 1 Lissencephaly 2, X-linked |
| Reversed | 0 |
| HGVS | NC_000023.10:g.25031651_25031677dup27; NC_000023.10:g.25031651_25031686dup36 |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000022855.6, RCV000193636.1, |
