rs397516664
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs397516664(G;T) |
| Make rs397516664(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 70023246 |
| Gene | EDA, MIR676 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397516664 |
| dbSNP (classic) | rs397516664 |
| ClinGen | rs397516664 |
| ebi | rs397516664 |
| HLI | rs397516664 |
| Exac | rs397516664 |
| Gnomad | rs397516664 |
| Varsome | rs397516664 |
| LitVar | rs397516664 |
| Map | rs397516664 |
| PheGenI | rs397516664 |
| Biobank | rs397516664 |
| 1000 genomes | rs397516664 |
| hgdp | rs397516664 |
| ensembl | rs397516664 |
| geneview | rs397516664 |
| scholar | rs397516664 |
| rs397516664 | |
| pharmgkb | rs397516664 |
| gwascentral | rs397516664 |
| openSNP | rs397516664 |
| 23andMe | rs397516664 |
| SNPshot | rs397516664 |
| SNPdbe | rs397516664 |
| MSV3d | rs397516664 |
| GWAS Ctlg | rs397516664 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397516664(T;T) |
| Alt | rs397516664(T;T) |
| Reference | Rs397516664(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Hypohidrotic ectodermal dysplasia |
| Variation | info |
| Gene | EDA MIR676 |
| CLNDBN | Hypohidrotic ectodermal dysplasia |
| Reversed | 0 |
| HGVS | NC_000023.10:g.69243096G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000037174.3, |
