rs80358243
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs80358243(A;A) |
| Make rs80358243(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 50083183 |
| Gene | MLC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358243 |
| dbSNP (classic) | rs80358243 |
| ClinGen | rs80358243 |
| ebi | rs80358243 |
| HLI | rs80358243 |
| Exac | rs80358243 |
| Gnomad | rs80358243 |
| Varsome | rs80358243 |
| LitVar | rs80358243 |
| Map | rs80358243 |
| PheGenI | rs80358243 |
| Biobank | rs80358243 |
| 1000 genomes | rs80358243 |
| hgdp | rs80358243 |
| ensembl | rs80358243 |
| geneview | rs80358243 |
| scholar | rs80358243 |
| rs80358243 | |
| pharmgkb | rs80358243 |
| gwascentral | rs80358243 |
| openSNP | rs80358243 |
| 23andMe | rs80358243 |
| SNPshot | rs80358243 |
| SNPdbe | rs80358243 |
| MSV3d | rs80358243 |
| GWAS Ctlg | rs80358243 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80358243(A;A) rs80358243(C;C) |
| Alt | rs80358243(A;A) rs80358243(C;C) |
| Reference | Rs80358243(T;T) |
| Significance | Pathogenic |
| Disease | Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| Variation | info |
| Gene | MLC1 |
| CLNDBN | Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| Reversed | 1 |
| HGVS | NC_000022.10:g.50521612A>T |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020712.2, |
