rs2269736
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs2269736(A;A) |
| Make rs2269736(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 129528683 |
| Gene | RHO |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2269736 |
| dbSNP (classic) | rs2269736 |
| ClinGen | rs2269736 |
| ebi | rs2269736 |
| HLI | rs2269736 |
| Exac | rs2269736 |
| Gnomad | rs2269736 |
| Varsome | rs2269736 |
| LitVar | rs2269736 |
| Map | rs2269736 |
| PheGenI | rs2269736 |
| Biobank | rs2269736 |
| 1000 genomes | rs2269736 |
| hgdp | rs2269736 |
| ensembl | rs2269736 |
| geneview | rs2269736 |
| scholar | rs2269736 |
| rs2269736 | |
| pharmgkb | rs2269736 |
| gwascentral | rs2269736 |
| openSNP | rs2269736 |
| 23andMe | rs2269736 |
| SNPshot | rs2269736 |
| SNPdbe | rs2269736 |
| MSV3d | rs2269736 |
| GWAS Ctlg | rs2269736 |
| GMAF | 0.1717 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20555336] Linkage analysis and mutation screening of the rhodopsin gene in a Chinese Bai family with autosomal dominant retinitis pigmentosa
| ClinVar | |
|---|---|
| Risk | rs2269736(A;A) rs2269736(C;C) |
| Alt | rs2269736(A;A) rs2269736(C;C) |
| Reference | Rs2269736(G;G) |
| Significance | Non-pathogenic |
| Disease | Retinitis Pigmentosa Congenital Stationary Night Blindness |
| Variation | info |
| Gene | RHO |
| CLNDBN | Retinitis Pigmentosa, Dominant/Recessive Congenital Stationary Night Blindness, Dominant |
| Reversed | 0 |
| HGVS | NC_000003.11:g.129247526G>A |
| CLNSRC | |
| CLNACC | RCV000272221.1, RCV000320268.1, |
