rs312262854
From SNPedia
| Merged into | rs312262852 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AA;AA) | 0 | common in clinvar |
| Make rs312262854(-;-) |
| Make rs312262854(-;AA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 13749437 |
| Gene | OFD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs312262854 |
| dbSNP (classic) | rs312262854 |
| ClinGen | rs312262854 |
| ebi | rs312262854 |
| HLI | rs312262854 |
| Exac | rs312262854 |
| Gnomad | rs312262854 |
| Varsome | rs312262854 |
| LitVar | rs312262854 |
| Map | rs312262854 |
| PheGenI | rs312262854 |
| Biobank | rs312262854 |
| 1000 genomes | rs312262854 |
| hgdp | rs312262854 |
| ensembl | rs312262854 |
| geneview | rs312262854 |
| scholar | rs312262854 |
| rs312262854 | |
| pharmgkb | rs312262854 |
| gwascentral | rs312262854 |
| openSNP | rs312262854 |
| 23andMe | rs312262854 |
| SNPshot | rs312262854 |
| SNPdbe | rs312262854 |
| MSV3d | rs312262854 |
| GWAS Ctlg | rs312262854 |
| Status | Merged into rs312262852 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs312262854(AA;AA) |
| Significance | Pathogenic |
| Disease | Oral-facial-digital syndrome |
| Variation | info |
| Gene | OFD1 |
| CLNDBN | Oral-facial-digital syndrome |
| Reversed | 0 |
| HGVS | NC_000023.10:g.13767556_13767557delAA |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000034048.3, |
