rs879253774
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AAG;AAG) | 0 | common in clinvar |
| Make rs879253774(-;-) |
| Make rs879253774(-;AGA) |
| Make rs879253774(AGA;AGA) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 12 |
| Position | 6843043 |
| Gene | GNB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs879253774 |
| dbSNP (classic) | rs879253774 |
| ClinGen | rs879253774 |
| ebi | rs879253774 |
| HLI | rs879253774 |
| Exac | rs879253774 |
| Gnomad | rs879253774 |
| Varsome | rs879253774 |
| LitVar | rs879253774 |
| Map | rs879253774 |
| PheGenI | rs879253774 |
| Biobank | rs879253774 |
| 1000 genomes | rs879253774 |
| hgdp | rs879253774 |
| ensembl | rs879253774 |
| geneview | rs879253774 |
| scholar | rs879253774 |
| rs879253774 | |
| pharmgkb | rs879253774 |
| gwascentral | rs879253774 |
| openSNP | rs879253774 |
| 23andMe | rs879253774 |
| SNPshot | rs879253774 |
| SNPdbe | rs879253774 |
| MSV3d | rs879253774 |
| GWAS Ctlg | rs879253774 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs879253774(-;-) |
| Alt | rs879253774(-;-) |
| Reference | Rs879253774(AAG;AAG) |
| Significance | Pathogenic |
| Disease | Night blindness |
| Variation | info |
| Gene | GNB3 |
| CLNDBN | Night blindness, congenital stationary, type 1h |
| Reversed | 0 |
| HGVS | NC_000012.11:g.6952207_6952209delAGA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000234964.2, |
