rs113993993
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs113993993(C;C) |
| Make rs113993993(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 66994210 |
| Gene | SBDS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113993993 |
| dbSNP (classic) | rs113993993 |
| ClinGen | rs113993993 |
| ebi | rs113993993 |
| HLI | rs113993993 |
| Exac | rs113993993 |
| Gnomad | rs113993993 |
| Varsome | rs113993993 |
| LitVar | rs113993993 |
| Map | rs113993993 |
| PheGenI | rs113993993 |
| Biobank | rs113993993 |
| 1000 genomes | rs113993993 |
| hgdp | rs113993993 |
| ensembl | rs113993993 |
| geneview | rs113993993 |
| scholar | rs113993993 |
| rs113993993 | |
| pharmgkb | rs113993993 |
| gwascentral | rs113993993 |
| openSNP | rs113993993 |
| 23andMe | rs113993993 |
| SNPshot | rs113993993 |
| SNPdbe | rs113993993 |
| MSV3d | rs113993993 |
| GWAS Ctlg | rs113993993 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs113993993(C;C) |
| Alt | rs113993993(C;C) |
| Reference | Rs113993993(T;T) |
| Significance | Other |
| Disease | Shwachman syndrome Aplastic anemia not provided |
| Variation | info |
| Gene | SBDS |
| CLNDBN | Shwachman syndrome Aplastic anemia, susceptibility to not provided |
| Reversed | 1 |
| HGVS | NC_000007.13:g.66459197A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003347.4, RCV000003348.4, RCV000255013.2, |
[PMID 17478638
] Mutations in the SBDS gene in acquired aplastic anemia.
