rs140263599
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs140263599(C;T) |
| Make rs140263599(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 12 |
| Position | 6843073 |
| Gene | GNB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140263599 |
| dbSNP (classic) | rs140263599 |
| ClinGen | rs140263599 |
| ebi | rs140263599 |
| HLI | rs140263599 |
| Exac | rs140263599 |
| Gnomad | rs140263599 |
| Varsome | rs140263599 |
| LitVar | rs140263599 |
| Map | rs140263599 |
| PheGenI | rs140263599 |
| Biobank | rs140263599 |
| 1000 genomes | rs140263599 |
| hgdp | rs140263599 |
| ensembl | rs140263599 |
| geneview | rs140263599 |
| scholar | rs140263599 |
| rs140263599 | |
| pharmgkb | rs140263599 |
| gwascentral | rs140263599 |
| openSNP | rs140263599 |
| 23andMe | rs140263599 |
| SNPshot | rs140263599 |
| SNPdbe | rs140263599 |
| MSV3d | rs140263599 |
| GWAS Ctlg | rs140263599 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs140263599(T;T) |
| Alt | rs140263599(T;T) |
| Reference | Rs140263599(C;C) |
| Significance | Pathogenic |
| Disease | Night blindness |
| Variation | info |
| Gene | GNB3 |
| CLNDBN | Night blindness, congenital stationary, type 1h |
| Reversed | 0 |
| HGVS | NC_000012.11:g.6952237C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000234967.2, |
