rs886041974
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Chromosome | X |
| Position | 53431556 |
| Gene | HSD17B10, RIBC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886041974 |
| dbSNP (classic) | rs886041974 |
| ClinGen | rs886041974 |
| ebi | rs886041974 |
| HLI | rs886041974 |
| Exac | rs886041974 |
| Gnomad | rs886041974 |
| Varsome | rs886041974 |
| LitVar | rs886041974 |
| Map | rs886041974 |
| PheGenI | rs886041974 |
| Biobank | rs886041974 |
| 1000 genomes | rs886041974 |
| hgdp | rs886041974 |
| ensembl | rs886041974 |
| geneview | rs886041974 |
| scholar | rs886041974 |
| rs886041974 | |
| pharmgkb | rs886041974 |
| gwascentral | rs886041974 |
| openSNP | rs886041974 |
| 23andMe | rs886041974 |
| SNPshot | rs886041974 |
| SNPdbe | rs886041974 |
| MSV3d | rs886041974 |
| GWAS Ctlg | rs886041974 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886041974(G;G) |
| Alt | rs886041974(G;G) |
| Reference | Rs886041974(A;A) |
| Significance | Pathogenic |
| Disease | not provided 2-methyl-3-hydroxybutyric aciduria |
| Variation | info |
| Gene | HSD17B10 RIBC1 |
| CLNDBN | not provided 2-methyl-3-hydroxybutyric aciduria |
| Reversed | 1 |
| HGVS | NC_000023.10:g.53458504T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000365072.1, RCV000488602.1, |
