rs104894942
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | carrier of a Barth syndrome allele |
| (C;C) | 0 | common in clinvar |
| Make rs104894942(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 154413248 |
| Gene | DNASE1L1, TAZ |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894942 |
| dbSNP (classic) | rs104894942 |
| ClinGen | rs104894942 |
| ebi | rs104894942 |
| HLI | rs104894942 |
| Exac | rs104894942 |
| Gnomad | rs104894942 |
| Varsome | rs104894942 |
| LitVar | rs104894942 |
| Map | rs104894942 |
| PheGenI | rs104894942 |
| Biobank | rs104894942 |
| 1000 genomes | rs104894942 |
| hgdp | rs104894942 |
| ensembl | rs104894942 |
| geneview | rs104894942 |
| scholar | rs104894942 |
| rs104894942 | |
| pharmgkb | rs104894942 |
| gwascentral | rs104894942 |
| openSNP | rs104894942 |
| 23andMe | rs104894942 |
| SNPshot | rs104894942 |
| SNPdbe | rs104894942 |
| MSV3d | rs104894942 |
| GWAS Ctlg | rs104894942 |
| Max Magnitude | 3 |
Barth syndrome, also known as 3-Methylglutaconic aciduria type 2
| ClinVar | |
|---|---|
| Risk | rs104894942(A;A) rs104894942(T;T) |
| Alt | rs104894942(A;A) rs104894942(T;T) |
| Reference | Rs104894942(C;C) |
| Significance | Pathogenic |
| Disease | 3-Methylglutaconic aciduria type 2 not provided |
| Variation | info |
| Gene | TAZ DNASE1L1 |
| CLNDBN | 3-Methylglutaconic aciduria type 2 not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.153641585C>A; NC_000023.10:g.153641585C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000011859.5, RCV000183907.1, |
