rs1046974
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1046974(A;A) |
| Make rs1046974(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 233346901 |
| Gene | SAG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1046974 |
| dbSNP (classic) | rs1046974 |
| ClinGen | rs1046974 |
| ebi | rs1046974 |
| HLI | rs1046974 |
| Exac | rs1046974 |
| Gnomad | rs1046974 |
| Varsome | rs1046974 |
| LitVar | rs1046974 |
| Map | rs1046974 |
| PheGenI | rs1046974 |
| Biobank | rs1046974 |
| 1000 genomes | rs1046974 |
| hgdp | rs1046974 |
| ensembl | rs1046974 |
| geneview | rs1046974 |
| scholar | rs1046974 |
| rs1046974 | |
| pharmgkb | rs1046974 |
| gwascentral | rs1046974 |
| openSNP | rs1046974 |
| 23andMe | rs1046974 |
| SNPshot | rs1046974 |
| SNPdbe | rs1046974 |
| MSV3d | rs1046974 |
| GWAS Ctlg | rs1046974 |
| GMAF | 0.3127 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1046974(A;A) |
| Alt | rs1046974(A;A) |
| Reference | Rs1046974(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Retinitis Pigmentosa Oguchi's disease |
| Variation | info |
| Gene | SAG |
| CLNDBN | not specified Retinitis Pigmentosa, Recessive Oguchi's disease |
| Reversed | 0 |
| HGVS | NC_000002.11:g.234255547G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000175016.1, RCV000308556.1, RCV000403333.1, |
