rs104886492
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs104886492(C;C) |
| Make rs104886492(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 53432410 |
| Gene | HSD17B10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104886492 |
| dbSNP (classic) | rs104886492 |
| ClinGen | rs104886492 |
| ebi | rs104886492 |
| HLI | rs104886492 |
| Exac | rs104886492 |
| Gnomad | rs104886492 |
| Varsome | rs104886492 |
| LitVar | rs104886492 |
| Map | rs104886492 |
| PheGenI | rs104886492 |
| Biobank | rs104886492 |
| 1000 genomes | rs104886492 |
| hgdp | rs104886492 |
| ensembl | rs104886492 |
| geneview | rs104886492 |
| scholar | rs104886492 |
| rs104886492 | |
| pharmgkb | rs104886492 |
| gwascentral | rs104886492 |
| openSNP | rs104886492 |
| 23andMe | rs104886492 |
| SNPshot | rs104886492 |
| SNPdbe | rs104886492 |
| MSV3d | rs104886492 |
| GWAS Ctlg | rs104886492 |
| Max Magnitude | 0 |
[PMID 22132097
] A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability
| ClinVar | |
|---|---|
| Risk | rs104886492(C;C) |
| Alt | rs104886492(C;C) |
| Reference | Rs104886492(T;T) |
| Significance | Pathogenic |
| Disease | not specified 2-methyl-3-hydroxybutyric aciduria |
| Variation | info |
| Gene | HSD17B10 |
| CLNDBN | not specified 2-methyl-3-hydroxybutyric aciduria |
| Reversed | 1 |
| HGVS | NC_000023.10:g.53459358A>G |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000081106.4, RCV000488826.1, |
