rs386576624
From SNPedia
| Merged into | rs56030372 |
| Orientation | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs386576624(C;T) |
| Make rs386576624(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | X |
| Position | 111401108 |
| Gene | DCX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386576624 |
| dbSNP (classic) | rs386576624 |
| ClinGen | rs386576624 |
| ebi | rs386576624 |
| HLI | rs386576624 |
| Exac | rs386576624 |
| Gnomad | rs386576624 |
| Varsome | rs386576624 |
| LitVar | rs386576624 |
| Map | rs386576624 |
| PheGenI | rs386576624 |
| Biobank | rs386576624 |
| 1000 genomes | rs386576624 |
| hgdp | rs386576624 |
| ensembl | rs386576624 |
| geneview | rs386576624 |
| scholar | rs386576624 |
| rs386576624 | |
| pharmgkb | rs386576624 |
| gwascentral | rs386576624 |
| openSNP | rs386576624 |
| 23andMe | rs386576624 |
| SNPshot | rs386576624 |
| SNPdbe | rs386576624 |
| MSV3d | rs386576624 |
| GWAS Ctlg | rs386576624 |
| Status | Merged into rs56030372 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386576624(T;T) |
| Alt | rs386576624(T;T) |
| Reference | Rs386576624(C;C) |
| Significance | Pathogenic |
| Disease | Lissencephaly Subcortical laminar heterotopia Heterotopia |
| Variation | info |
| Gene | DCX |
| CLNDBN | Lissencephaly, X-linked Subcortical laminar heterotopia, X-linked Heterotopia |
| Reversed | 0 |
| HGVS | NC_000023.11:g.111401108C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012373.13, RCV000012374.13, RCV000145869.1, |
