rs444772
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs444772(A;A) |
| Make rs444772(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 54626497 |
| Gene | RP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs444772 |
| dbSNP (classic) | rs444772 |
| ClinGen | rs444772 |
| ebi | rs444772 |
| HLI | rs444772 |
| Exac | rs444772 |
| Gnomad | rs444772 |
| Varsome | rs444772 |
| LitVar | rs444772 |
| Map | rs444772 |
| PheGenI | rs444772 |
| Biobank | rs444772 |
| 1000 genomes | rs444772 |
| hgdp | rs444772 |
| ensembl | rs444772 |
| geneview | rs444772 |
| scholar | rs444772 |
| rs444772 | |
| pharmgkb | rs444772 |
| gwascentral | rs444772 |
| openSNP | rs444772 |
| 23andMe | rs444772 |
| SNPshot | rs444772 |
| SNPdbe | rs444772 |
| MSV3d | rs444772 |
| GWAS Ctlg | rs444772 |
| GMAF | 0.3003 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19339744
] Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
[PMID 20664799] Differential pattern of RP1 mutations in retinitis pigmentosa.
| ClinVar | |
|---|---|
| Risk | rs444772(A;A) |
| Alt | rs444772(A;A) |
| Reference | Rs444772(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Retinitis Pigmentosa |
| Variation | info |
| Gene | RP1 |
| CLNDBN | not specified Retinitis Pigmentosa, Dominant |
| Reversed | 0 |
| HGVS | NC_000008.10:g.55539057G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000153847.3, RCV000277987.1, |
