rs62626305
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs62626305(C;C) |
| Make rs62626305(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 53431445 |
| Gene | HSD17B10, RIBC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs62626305 |
| dbSNP (classic) | rs62626305 |
| ClinGen | rs62626305 |
| ebi | rs62626305 |
| HLI | rs62626305 |
| Exac | rs62626305 |
| Gnomad | rs62626305 |
| Varsome | rs62626305 |
| LitVar | rs62626305 |
| Map | rs62626305 |
| PheGenI | rs62626305 |
| Biobank | rs62626305 |
| 1000 genomes | rs62626305 |
| hgdp | rs62626305 |
| ensembl | rs62626305 |
| geneview | rs62626305 |
| scholar | rs62626305 |
| rs62626305 | |
| pharmgkb | rs62626305 |
| gwascentral | rs62626305 |
| openSNP | rs62626305 |
| 23andMe | rs62626305 |
| SNPshot | rs62626305 |
| SNPdbe | rs62626305 |
| MSV3d | rs62626305 |
| GWAS Ctlg | rs62626305 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs62626305(C;C) |
| Alt | rs62626305(C;C) |
| Reference | Rs62626305(G;G) |
| Significance | Pathogenic |
| Disease | 2-methyl-3-hydroxybutyric aciduria |
| Variation | info |
| Gene | HSD17B10 RIBC1 |
| CLNDBN | 2-methyl-3-hydroxybutyric aciduria |
| Reversed | 1 |
| HGVS | NC_000023.10:g.53458393C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012199.13, |
[PMID 19706438
] Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
