rs132630297
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs132630297(C;T) |
| Make rs132630297(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 134425256 |
| Gene | PHF6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs132630297 |
| dbSNP (classic) | rs132630297 |
| ClinGen | rs132630297 |
| ebi | rs132630297 |
| HLI | rs132630297 |
| Exac | rs132630297 |
| Gnomad | rs132630297 |
| Varsome | rs132630297 |
| LitVar | rs132630297 |
| Map | rs132630297 |
| PheGenI | rs132630297 |
| Biobank | rs132630297 |
| 1000 genomes | rs132630297 |
| hgdp | rs132630297 |
| ensembl | rs132630297 |
| geneview | rs132630297 |
| scholar | rs132630297 |
| rs132630297 | |
| pharmgkb | rs132630297 |
| gwascentral | rs132630297 |
| openSNP | rs132630297 |
| 23andMe | rs132630297 |
| SNPshot | rs132630297 |
| SNPdbe | rs132630297 |
| MSV3d | rs132630297 |
| GWAS Ctlg | rs132630297 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs132630297(T;T) |
| Alt | rs132630297(T;T) |
| Reference | Rs132630297(C;C) |
| Significance | Pathogenic |
| Disease | Borjeson-Forssman-Lehmann syndrome |
| Variation | info |
| Gene | PHF6 |
| CLNDBN | Borjeson-Forssman-Lehmann syndrome |
| Reversed | 0 |
| HGVS | NC_000023.10:g.133559286C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000011812.10, |
