rs727505013
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs727505013(A;A) |
| Make rs727505013(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | X |
| Position | 69957133 |
| Gene | EDA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727505013 |
| dbSNP (classic) | rs727505013 |
| ClinGen | rs727505013 |
| ebi | rs727505013 |
| HLI | rs727505013 |
| Exac | rs727505013 |
| Gnomad | rs727505013 |
| Varsome | rs727505013 |
| LitVar | rs727505013 |
| Map | rs727505013 |
| PheGenI | rs727505013 |
| Biobank | rs727505013 |
| 1000 genomes | rs727505013 |
| hgdp | rs727505013 |
| ensembl | rs727505013 |
| geneview | rs727505013 |
| scholar | rs727505013 |
| rs727505013 | |
| pharmgkb | rs727505013 |
| gwascentral | rs727505013 |
| openSNP | rs727505013 |
| 23andMe | rs727505013 |
| SNPshot | rs727505013 |
| SNPdbe | rs727505013 |
| MSV3d | rs727505013 |
| GWAS Ctlg | rs727505013 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs727505013(A;A) |
| Alt | rs727505013(A;A) |
| Reference | Rs727505013(G;G) |
| Significance | Pathogenic |
| Disease | Hypohidrotic ectodermal dysplasia |
| Variation | info |
| Gene | EDA |
| CLNDBN | Hypohidrotic ectodermal dysplasia |
| Reversed | 0 |
| HGVS | NC_000023.10:g.69176983G>A |
| CLNSRC | |
| CLNACC | RCV000156436.2, |
