rs113993994
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (AAGA;AAGA) | 0 | common in clinvar |
| (D;D) | 0 | Miscall by Ancestry |
| Make rs113993994(-;-) |
| Make rs113993994(-;AAGA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 66993376 |
| Gene | SBDS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113993994 |
| dbSNP (classic) | rs113993994 |
| ClinGen | rs113993994 |
| ebi | rs113993994 |
| HLI | rs113993994 |
| Exac | rs113993994 |
| Gnomad | rs113993994 |
| Varsome | rs113993994 |
| LitVar | rs113993994 |
| Map | rs113993994 |
| PheGenI | rs113993994 |
| Biobank | rs113993994 |
| 1000 genomes | rs113993994 |
| hgdp | rs113993994 |
| ensembl | rs113993994 |
| geneview | rs113993994 |
| scholar | rs113993994 |
| rs113993994 | |
| pharmgkb | rs113993994 |
| gwascentral | rs113993994 |
| openSNP | rs113993994 |
| 23andMe | rs113993994 |
| SNPshot | rs113993994 |
| SNPdbe | rs113993994 |
| MSV3d | rs113993994 |
| GWAS Ctlg | rs113993994 |
| Max Magnitude | 0 |
aka c.297_300delAAGA (p.Glu99Aspfs)
| ClinVar | |
|---|---|
| Risk | rs113993994(-;-) |
| Alt | rs113993994(-;-) |
| Reference | Rs113993994(AAGA;AAGA) |
| Significance | Pathogenic |
| Disease | Shwachman syndrome |
| Variation | info |
| Gene | SBDS |
| CLNDBN | Shwachman syndrome |
| Reversed | 1 |
| HGVS | NC_000007.13:g.66458363_66458366delTCTT |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020729.1, |
