rs119103230
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs119103230(A;A) |
| Make rs119103230(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 36759781 |
| Gene | HLCS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119103230 |
| dbSNP (classic) | rs119103230 |
| ClinGen | rs119103230 |
| ebi | rs119103230 |
| HLI | rs119103230 |
| Exac | rs119103230 |
| Gnomad | rs119103230 |
| Varsome | rs119103230 |
| LitVar | rs119103230 |
| Map | rs119103230 |
| PheGenI | rs119103230 |
| Biobank | rs119103230 |
| 1000 genomes | rs119103230 |
| hgdp | rs119103230 |
| ensembl | rs119103230 |
| geneview | rs119103230 |
| scholar | rs119103230 |
| rs119103230 | |
| pharmgkb | rs119103230 |
| gwascentral | rs119103230 |
| openSNP | rs119103230 |
| 23andMe | rs119103230 |
| SNPshot | rs119103230 |
| SNPdbe | rs119103230 |
| MSV3d | rs119103230 |
| GWAS Ctlg | rs119103230 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs119103230(A;A) |
| Alt | rs119103230(A;A) |
| Reference | Rs119103230(G;G) |
| Significance | Pathogenic |
| Disease | Holocarboxylase synthetase deficiency |
| Variation | info |
| Gene | HLCS |
| CLNDBN | Holocarboxylase synthetase deficiency |
| Reversed | 1 |
| HGVS | NC_000021.8:g.38132082C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001987.5, |
