rs34885143
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs34885143(A;A) |
| Make rs34885143(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 15635512 |
| Gene | BTD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34885143 |
| dbSNP (classic) | rs34885143 |
| ClinGen | rs34885143 |
| ebi | rs34885143 |
| HLI | rs34885143 |
| Exac | rs34885143 |
| Gnomad | rs34885143 |
| Varsome | rs34885143 |
| LitVar | rs34885143 |
| Map | rs34885143 |
| PheGenI | rs34885143 |
| Biobank | rs34885143 |
| 1000 genomes | rs34885143 |
| hgdp | rs34885143 |
| ensembl | rs34885143 |
| geneview | rs34885143 |
| scholar | rs34885143 |
| rs34885143 | |
| pharmgkb | rs34885143 |
| gwascentral | rs34885143 |
| openSNP | rs34885143 |
| 23andMe | rs34885143 |
| SNPshot | rs34885143 |
| SNPdbe | rs34885143 |
| MSV3d | rs34885143 |
| GWAS Ctlg | rs34885143 |
| GMAF | 0.003673 |
| Max Magnitude | 0 |
minor allele should be reclassified as benign according to [PMID 26990548
]
| ClinVar | |
|---|---|
| Risk | rs34885143(A;A) |
| Alt | rs34885143(A;A) |
| Reference | Rs34885143(G;G) |
| Significance | Other |
| Disease | Biotinidase deficiency not specified |
| Variation | info |
| Gene | BTD |
| CLNDBN | Biotinidase deficiency not specified |
| Reversed | 0 |
| HGVS | NC_000003.11:g.15677019G>A |
| CLNSRC | ARUP BTD |
| CLNACC | RCV000021888.2, RCV000021889.1, RCV000021890.1, RCV000185799.3, |
