rs368744809
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs368744809(G;T) |
| Make rs368744809(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 5 |
| Position | 119493897 |
| Gene | HSD17B4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs368744809 |
| dbSNP (classic) | rs368744809 |
| ClinGen | rs368744809 |
| ebi | rs368744809 |
| HLI | rs368744809 |
| Exac | rs368744809 |
| Gnomad | rs368744809 |
| Varsome | rs368744809 |
| LitVar | rs368744809 |
| Map | rs368744809 |
| PheGenI | rs368744809 |
| Biobank | rs368744809 |
| 1000 genomes | rs368744809 |
| hgdp | rs368744809 |
| ensembl | rs368744809 |
| geneview | rs368744809 |
| scholar | rs368744809 |
| rs368744809 | |
| pharmgkb | rs368744809 |
| gwascentral | rs368744809 |
| openSNP | rs368744809 |
| 23andMe | rs368744809 |
| SNPshot | rs368744809 |
| SNPdbe | rs368744809 |
| MSV3d | rs368744809 |
| GWAS Ctlg | rs368744809 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs368744809(T;T) |
| Alt | rs368744809(T;T) |
| Reference | Rs368744809(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Bifunctional peroxisomal enzyme deficiency |
| Variation | info |
| Gene | HSD17B4 |
| CLNDBN | Bifunctional peroxisomal enzyme deficiency |
| Reversed | 0 |
| HGVS | NC_000005.9:g.118829592G>T |
| CLNSRC | |
| CLNACC | RCV000184045.1, |
