rs8069344
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs8069344(A;A) |
| Make rs8069344(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 8013961 |
| Gene | GUCY2D |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8069344 |
| dbSNP (classic) | rs8069344 |
| ClinGen | rs8069344 |
| ebi | rs8069344 |
| HLI | rs8069344 |
| Exac | rs8069344 |
| Gnomad | rs8069344 |
| Varsome | rs8069344 |
| LitVar | rs8069344 |
| Map | rs8069344 |
| PheGenI | rs8069344 |
| Biobank | rs8069344 |
| 1000 genomes | rs8069344 |
| hgdp | rs8069344 |
| ensembl | rs8069344 |
| geneview | rs8069344 |
| scholar | rs8069344 |
| rs8069344 | |
| pharmgkb | rs8069344 |
| gwascentral | rs8069344 |
| openSNP | rs8069344 |
| 23andMe | rs8069344 |
| SNPshot | rs8069344 |
| SNPdbe | rs8069344 |
| MSV3d | rs8069344 |
| GWAS Ctlg | rs8069344 |
| GMAF | 0.1552 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 18936139
] Mutation survey of known LCA genes and loci in the Saudi Arabian population.
| ClinVar | |
|---|---|
| Risk | rs8069344(A;A) |
| Alt | rs8069344(A;A) |
| Reference | Rs8069344(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | GUCY2D |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000017.10:g.7917279T>A |
| CLNSRC | |
| CLNACC | RCV000248393.1, |
