rs72552294
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs72552294(C;T) |
| Make rs72552294(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 32159074 |
| Gene | GPD1L |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72552294 |
| dbSNP (classic) | rs72552294 |
| ClinGen | rs72552294 |
| ebi | rs72552294 |
| HLI | rs72552294 |
| Exac | rs72552294 |
| Gnomad | rs72552294 |
| Varsome | rs72552294 |
| LitVar | rs72552294 |
| Map | rs72552294 |
| PheGenI | rs72552294 |
| Biobank | rs72552294 |
| 1000 genomes | rs72552294 |
| hgdp | rs72552294 |
| ensembl | rs72552294 |
| geneview | rs72552294 |
| scholar | rs72552294 |
| rs72552294 | |
| pharmgkb | rs72552294 |
| gwascentral | rs72552294 |
| openSNP | rs72552294 |
| 23andMe | rs72552294 |
| SNPshot | rs72552294 |
| SNPdbe | rs72552294 |
| MSV3d | rs72552294 |
| GWAS Ctlg | rs72552294 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72552294(T;T) |
| Alt | rs72552294(T;T) |
| Reference | Rs72552294(C;C) |
| Significance | Pathogenic |
| Disease | Brugada syndrome 2 not specified |
| Variation | info |
| Gene | GPD1L |
| CLNDBN | Brugada syndrome 2 not specified |
| Reversed | 0 |
| HGVS | NC_000003.11:g.32200566C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000825.2, RCV000170922.3, |
[PMID 17967976
] Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.
