rs77200626
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs77200626(C;C) |
| Make rs77200626(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 18312975 |
| Gene | TMPRSS15 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77200626 |
| dbSNP (classic) | rs77200626 |
| ClinGen | rs77200626 |
| ebi | rs77200626 |
| HLI | rs77200626 |
| Exac | rs77200626 |
| Gnomad | rs77200626 |
| Varsome | rs77200626 |
| LitVar | rs77200626 |
| Map | rs77200626 |
| PheGenI | rs77200626 |
| Biobank | rs77200626 |
| 1000 genomes | rs77200626 |
| hgdp | rs77200626 |
| ensembl | rs77200626 |
| geneview | rs77200626 |
| scholar | rs77200626 |
| rs77200626 | |
| pharmgkb | rs77200626 |
| gwascentral | rs77200626 |
| openSNP | rs77200626 |
| 23andMe | rs77200626 |
| SNPshot | rs77200626 |
| SNPdbe | rs77200626 |
| MSV3d | rs77200626 |
| GWAS Ctlg | rs77200626 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs77200626(C;C) |
| Alt | rs77200626(C;C) |
| Reference | Rs77200626(G;G) |
| Significance | Pathogenic |
| Disease | Enterokinase deficiency |
| Variation | info |
| Gene | TMPRSS15 |
| CLNDBN | Enterokinase deficiency |
| Reversed | 0 |
| HGVS | NC_000021.8:g.19685292G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004381.3, |
