rs796064506
From SNPedia
| Merged into | rs794728001 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CTGT;CTGT) | 0 | common in clinvar |
| Make rs796064506(-;-) |
| Make rs796064506(-;CTGT) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 30615771 |
| Gene | TCN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs796064506 |
| dbSNP (classic) | rs796064506 |
| ClinGen | rs796064506 |
| ebi | rs796064506 |
| HLI | rs796064506 |
| Exac | rs796064506 |
| Gnomad | rs796064506 |
| Varsome | rs796064506 |
| LitVar | rs796064506 |
| Map | rs796064506 |
| PheGenI | rs796064506 |
| Biobank | rs796064506 |
| 1000 genomes | rs796064506 |
| hgdp | rs796064506 |
| ensembl | rs796064506 |
| geneview | rs796064506 |
| scholar | rs796064506 |
| rs796064506 | |
| pharmgkb | rs796064506 |
| gwascentral | rs796064506 |
| openSNP | rs796064506 |
| 23andMe | rs796064506 |
| SNPshot | rs796064506 |
| SNPdbe | rs796064506 |
| MSV3d | rs796064506 |
| GWAS Ctlg | rs796064506 |
| Status | Merged into rs794728001 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs796064506(CTGT;CTGT) |
| Significance | Pathogenic |
| Disease | Transcobalamin II deficiency |
| Variation | info |
| Gene | TCN2 |
| CLNDBN | Transcobalamin II deficiency |
| Reversed | 0 |
| HGVS | NC_000022.10:g.31011761_31011764delTCTG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000116.3, |
