rs56030372
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs56030372(A;A) |
| Make rs56030372(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 111401108 |
| Gene | DCX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs56030372 |
| dbSNP (classic) | rs56030372 |
| ClinGen | rs56030372 |
| ebi | rs56030372 |
| HLI | rs56030372 |
| Exac | rs56030372 |
| Gnomad | rs56030372 |
| Varsome | rs56030372 |
| LitVar | rs56030372 |
| Map | rs56030372 |
| PheGenI | rs56030372 |
| Biobank | rs56030372 |
| 1000 genomes | rs56030372 |
| hgdp | rs56030372 |
| ensembl | rs56030372 |
| geneview | rs56030372 |
| scholar | rs56030372 |
| rs56030372 | |
| pharmgkb | rs56030372 |
| gwascentral | rs56030372 |
| openSNP | rs56030372 |
| 23andMe | rs56030372 |
| SNPshot | rs56030372 |
| SNPdbe | rs56030372 |
| MSV3d | rs56030372 |
| GWAS Ctlg | rs56030372 |
| Merged from | Rs28935172, Rs386576624 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs56030372(A;A) |
| Alt | rs56030372(A;A) |
| Reference | Rs56030372(G;G) |
| Significance | Pathogenic |
| Disease | Lissencephaly Subcortical laminar heterotopia Heterotopia |
| Variation | info |
| Gene | DCX |
| CLNDBN | Lissencephaly, X-linked Subcortical laminar heterotopia, X-linked Heterotopia |
| Reversed | 1 |
| HGVS | NC_000023.10:g.110644336C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012373.14, RCV000012374.14, RCV000145869.1, |
