rs372866837
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs372866837(A;G) |
| Make rs372866837(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 30615125 |
| Gene | TCN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs372866837 |
| dbSNP (classic) | rs372866837 |
| ClinGen | rs372866837 |
| ebi | rs372866837 |
| HLI | rs372866837 |
| Exac | rs372866837 |
| Gnomad | rs372866837 |
| Varsome | rs372866837 |
| LitVar | rs372866837 |
| Map | rs372866837 |
| PheGenI | rs372866837 |
| Biobank | rs372866837 |
| 1000 genomes | rs372866837 |
| hgdp | rs372866837 |
| ensembl | rs372866837 |
| geneview | rs372866837 |
| scholar | rs372866837 |
| rs372866837 | |
| pharmgkb | rs372866837 |
| gwascentral | rs372866837 |
| openSNP | rs372866837 |
| 23andMe | rs372866837 |
| SNPshot | rs372866837 |
| SNPdbe | rs372866837 |
| MSV3d | rs372866837 |
| GWAS Ctlg | rs372866837 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs372866837(G;G) rs372866837(T;T) |
| Alt | rs372866837(G;G) rs372866837(T;T) |
| Reference | Rs372866837(A;A) |
| Significance | Pathogenic |
| Disease | Transcolabamin II deficiency |
| Variation | info |
| Gene | TCN2 |
| CLNDBN | Transcolabamin II deficiency |
| Reversed | 0 |
| HGVS | NC_000022.10:g.31011112A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000120.3, |
