rs397514736
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs397514736(C;T) |
| Make rs397514736(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 22259652 |
| Gene | ANO5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397514736 |
| dbSNP (classic) | rs397514736 |
| ClinGen | rs397514736 |
| ebi | rs397514736 |
| HLI | rs397514736 |
| Exac | rs397514736 |
| Gnomad | rs397514736 |
| Varsome | rs397514736 |
| LitVar | rs397514736 |
| Map | rs397514736 |
| PheGenI | rs397514736 |
| Biobank | rs397514736 |
| 1000 genomes | rs397514736 |
| hgdp | rs397514736 |
| ensembl | rs397514736 |
| geneview | rs397514736 |
| scholar | rs397514736 |
| rs397514736 | |
| pharmgkb | rs397514736 |
| gwascentral | rs397514736 |
| openSNP | rs397514736 |
| 23andMe | rs397514736 |
| SNPshot | rs397514736 |
| SNPdbe | rs397514736 |
| MSV3d | rs397514736 |
| GWAS Ctlg | rs397514736 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397514736(T;T) |
| Alt | rs397514736(T;T) |
| Reference | Rs397514736(C;C) |
| Significance | Pathogenic |
| Disease | Gnathodiaphyseal dysplasia |
| Variation | info |
| Gene | ANO5 |
| CLNDBN | Gnathodiaphyseal dysplasia |
| Reversed | 0 |
| HGVS | NC_000011.9:g.22281198C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000054502.3, |
