rs747806672
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs747806672(C;T) |
| Make rs747806672(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 108897110 |
| Gene | EDAR, RANBP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs747806672 |
| dbSNP (classic) | rs747806672 |
| ClinGen | rs747806672 |
| ebi | rs747806672 |
| HLI | rs747806672 |
| Exac | rs747806672 |
| Gnomad | rs747806672 |
| Varsome | rs747806672 |
| LitVar | rs747806672 |
| Map | rs747806672 |
| PheGenI | rs747806672 |
| Biobank | rs747806672 |
| 1000 genomes | rs747806672 |
| hgdp | rs747806672 |
| ensembl | rs747806672 |
| geneview | rs747806672 |
| scholar | rs747806672 |
| rs747806672 | |
| pharmgkb | rs747806672 |
| gwascentral | rs747806672 |
| openSNP | rs747806672 |
| 23andMe | rs747806672 |
| SNPshot | rs747806672 |
| SNPdbe | rs747806672 |
| MSV3d | rs747806672 |
| GWAS Ctlg | rs747806672 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs747806672(T;T) |
| Alt | rs747806672(T;T) |
| Reference | Rs747806672(C;C) |
| Significance | Pathogenic |
| Disease | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome not provided |
| Variation | info |
| Gene | EDAR |
| CLNDBN | Autosomal recessive hypohidrotic ectodermal dysplasia syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.109513566C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000174400.1, RCV000255133.1, |
