rs750542962
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AACTC;AACTC) | 0 | common in clinvar |
| Make rs750542962(-;-) |
| Make rs750542962(-;AACTC) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 8 |
| Position | 54625599 |
| Gene | RP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs750542962 |
| dbSNP (classic) | rs750542962 |
| ClinGen | rs750542962 |
| ebi | rs750542962 |
| HLI | rs750542962 |
| Exac | rs750542962 |
| Gnomad | rs750542962 |
| Varsome | rs750542962 |
| LitVar | rs750542962 |
| Map | rs750542962 |
| PheGenI | rs750542962 |
| Biobank | rs750542962 |
| 1000 genomes | rs750542962 |
| hgdp | rs750542962 |
| ensembl | rs750542962 |
| geneview | rs750542962 |
| scholar | rs750542962 |
| rs750542962 | |
| pharmgkb | rs750542962 |
| gwascentral | rs750542962 |
| openSNP | rs750542962 |
| 23andMe | rs750542962 |
| SNPshot | rs750542962 |
| SNPdbe | rs750542962 |
| MSV3d | rs750542962 |
| GWAS Ctlg | rs750542962 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs750542962(-;-) |
| Alt | rs750542962(-;-) |
| Reference | Rs750542962(AACTC;AACTC) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | RP1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000008.10:g.55538159_55538163delAACTC |
| CLNSRC | |
| CLNACC | RCV000171534.1, |
