rs755412738
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs755412738(A;A) |
| Make rs755412738(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 5 |
| Position | 119525916 |
| Gene | HSD17B4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs755412738 |
| dbSNP (classic) | rs755412738 |
| ClinGen | rs755412738 |
| ebi | rs755412738 |
| HLI | rs755412738 |
| Exac | rs755412738 |
| Gnomad | rs755412738 |
| Varsome | rs755412738 |
| LitVar | rs755412738 |
| Map | rs755412738 |
| PheGenI | rs755412738 |
| Biobank | rs755412738 |
| 1000 genomes | rs755412738 |
| hgdp | rs755412738 |
| ensembl | rs755412738 |
| geneview | rs755412738 |
| scholar | rs755412738 |
| rs755412738 | |
| pharmgkb | rs755412738 |
| gwascentral | rs755412738 |
| openSNP | rs755412738 |
| 23andMe | rs755412738 |
| SNPshot | rs755412738 |
| SNPdbe | rs755412738 |
| MSV3d | rs755412738 |
| GWAS Ctlg | rs755412738 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs755412738(A;A) |
| Alt | rs755412738(A;A) |
| Reference | Rs755412738(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.118861611G>A |
| CLNSRC | |
| CLNACC | RCV000411356.1, |
