rs2276288
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs2276288(A;T) |
| Make rs2276288(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 77201591 |
| Gene | MYO7A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2276288 |
| dbSNP (classic) | rs2276288 |
| ClinGen | rs2276288 |
| ebi | rs2276288 |
| HLI | rs2276288 |
| Exac | rs2276288 |
| Gnomad | rs2276288 |
| Varsome | rs2276288 |
| LitVar | rs2276288 |
| Map | rs2276288 |
| PheGenI | rs2276288 |
| Biobank | rs2276288 |
| 1000 genomes | rs2276288 |
| hgdp | rs2276288 |
| ensembl | rs2276288 |
| geneview | rs2276288 |
| scholar | rs2276288 |
| rs2276288 | |
| pharmgkb | rs2276288 |
| gwascentral | rs2276288 |
| openSNP | rs2276288 |
| 23andMe | rs2276288 |
| SNPshot | rs2276288 |
| SNPdbe | rs2276288 |
| MSV3d | rs2276288 |
| GWAS Ctlg | rs2276288 |
| GMAF | 0.4068 |
| Max Magnitude | 0 |
[PMID 19320733] Pigmentation-related genes and their implication in malignant melanoma susceptibility.
[PMID 22483387] Pilot candidate gene analysis of patients >/= 60 years old with aortic stenosis involving a tricuspid aortic valve.
[PMID 24903972] Genetic predisposition to calcific aortic stenosis and mitral annular calcification
| ClinVar | |
|---|---|
| Risk | rs2276288(T;T) |
| Alt | rs2276288(T;T) |
| Reference | Rs2276288(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Nonsyndromic Hearing Loss Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome |
| Variation | info |
| Gene | MYO7A |
| CLNDBN | not specified Nonsyndromic Hearing Loss, Recessive Nonsyndromic Hearing Loss, Dominant Retinitis pigmentosa-deafness syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.76912636A>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000036174.4, RCV000294774.1, RCV000335830.1, RCV000389186.1, |
