rs375412499
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs375412499(C;T) |
| Make rs375412499(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 4 |
| Position | 47937655 |
| Gene | CNGA1, LOC101927157 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs375412499 |
| dbSNP (classic) | rs375412499 |
| ClinGen | rs375412499 |
| ebi | rs375412499 |
| HLI | rs375412499 |
| Exac | rs375412499 |
| Gnomad | rs375412499 |
| Varsome | rs375412499 |
| LitVar | rs375412499 |
| Map | rs375412499 |
| PheGenI | rs375412499 |
| Biobank | rs375412499 |
| 1000 genomes | rs375412499 |
| hgdp | rs375412499 |
| ensembl | rs375412499 |
| geneview | rs375412499 |
| scholar | rs375412499 |
| rs375412499 | |
| pharmgkb | rs375412499 |
| gwascentral | rs375412499 |
| openSNP | rs375412499 |
| 23andMe | rs375412499 |
| SNPshot | rs375412499 |
| SNPdbe | rs375412499 |
| MSV3d | rs375412499 |
| GWAS Ctlg | rs375412499 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs375412499(T;T) |
| Alt | rs375412499(T;T) |
| Reference | Rs375412499(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Retinitis pigmentosa |
| Variation | info |
| Gene | CNGA1 LOC101927157 |
| CLNDBN | Retinitis pigmentosa |
| Reversed | 0 |
| HGVS | NC_000004.11:g.47939672C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000132617.1, |
