rs121917899
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs121917899(A;G) |
| Make rs121917899(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 48901944 |
| Gene | PQBP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121917899 |
| dbSNP (classic) | rs121917899 |
| ClinGen | rs121917899 |
| ebi | rs121917899 |
| HLI | rs121917899 |
| Exac | rs121917899 |
| Gnomad | rs121917899 |
| Varsome | rs121917899 |
| LitVar | rs121917899 |
| Map | rs121917899 |
| PheGenI | rs121917899 |
| Biobank | rs121917899 |
| 1000 genomes | rs121917899 |
| hgdp | rs121917899 |
| ensembl | rs121917899 |
| geneview | rs121917899 |
| scholar | rs121917899 |
| rs121917899 | |
| pharmgkb | rs121917899 |
| gwascentral | rs121917899 |
| openSNP | rs121917899 |
| 23andMe | rs121917899 |
| SNPshot | rs121917899 |
| SNPdbe | rs121917899 |
| MSV3d | rs121917899 |
| GWAS Ctlg | rs121917899 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121917899(G;G) |
| Alt | rs121917899(G;G) |
| Reference | Rs121917899(A;A) |
| Significance | Pathogenic |
| Disease | Renpenning syndrome 1 |
| Variation | info |
| Gene | PQBP1 |
| CLNDBN | Renpenning syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000023.10:g.48759221A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000011732.7, |
