rs115677373
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs115677373(A;G) |
| Make rs115677373(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 15 |
| Position | 43252858 |
| Gene | TGM5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs115677373 |
| dbSNP (classic) | rs115677373 |
| ClinGen | rs115677373 |
| ebi | rs115677373 |
| HLI | rs115677373 |
| Exac | rs115677373 |
| Gnomad | rs115677373 |
| Varsome | rs115677373 |
| LitVar | rs115677373 |
| Map | rs115677373 |
| PheGenI | rs115677373 |
| Biobank | rs115677373 |
| 1000 genomes | rs115677373 |
| hgdp | rs115677373 |
| ensembl | rs115677373 |
| geneview | rs115677373 |
| scholar | rs115677373 |
| rs115677373 | |
| pharmgkb | rs115677373 |
| gwascentral | rs115677373 |
| openSNP | rs115677373 |
| 23andMe | rs115677373 |
| SNPshot | rs115677373 |
| SNPdbe | rs115677373 |
| MSV3d | rs115677373 |
| GWAS Ctlg | rs115677373 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs115677373(G;G) |
| Alt | rs115677373(G;G) |
| Reference | Rs115677373(A;A) |
| Significance | Pathogenic |
| Disease | Peeling skin syndrome |
| Variation | info |
| Gene | TGM5 |
| CLNDBN | Peeling skin syndrome, acral type |
| Reversed | 0 |
| HGVS | NC_000015.9:g.43545056A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000144912.5, |
