rs142948132
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs142948132(A;A) |
| Make rs142948132(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | X |
| Position | 70035434 |
| Gene | EDA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142948132 |
| dbSNP (classic) | rs142948132 |
| ClinGen | rs142948132 |
| ebi | rs142948132 |
| HLI | rs142948132 |
| Exac | rs142948132 |
| Gnomad | rs142948132 |
| Varsome | rs142948132 |
| LitVar | rs142948132 |
| Map | rs142948132 |
| PheGenI | rs142948132 |
| Biobank | rs142948132 |
| 1000 genomes | rs142948132 |
| hgdp | rs142948132 |
| ensembl | rs142948132 |
| geneview | rs142948132 |
| scholar | rs142948132 |
| rs142948132 | |
| pharmgkb | rs142948132 |
| gwascentral | rs142948132 |
| openSNP | rs142948132 |
| 23andMe | rs142948132 |
| SNPshot | rs142948132 |
| SNPdbe | rs142948132 |
| MSV3d | rs142948132 |
| GWAS Ctlg | rs142948132 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs142948132(A;A) rs142948132(C;C) |
| Alt | rs142948132(A;A) rs142948132(C;C) |
| Reference | Rs142948132(G;G) |
| Significance | Pathogenic |
| Disease | Tooth agenesis not specified |
| Variation | info |
| Gene | EDA |
| CLNDBN | Tooth agenesis, selective, X-linked, 1 not specified |
| Reversed | 0 |
| HGVS | NC_000023.10:g.69255284G>A; NC_000023.10:g.69255284G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000239557.1, RCV000223353.1, |
