rs2293869
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs2293869(A;T) |
| Make rs2293869(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 54626835 |
| Gene | RP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2293869 |
| dbSNP (classic) | rs2293869 |
| ClinGen | rs2293869 |
| ebi | rs2293869 |
| HLI | rs2293869 |
| Exac | rs2293869 |
| Gnomad | rs2293869 |
| Varsome | rs2293869 |
| LitVar | rs2293869 |
| Map | rs2293869 |
| PheGenI | rs2293869 |
| Biobank | rs2293869 |
| 1000 genomes | rs2293869 |
| hgdp | rs2293869 |
| ensembl | rs2293869 |
| geneview | rs2293869 |
| scholar | rs2293869 |
| rs2293869 | |
| pharmgkb | rs2293869 |
| gwascentral | rs2293869 |
| openSNP | rs2293869 |
| 23andMe | rs2293869 |
| SNPshot | rs2293869 |
| SNPdbe | rs2293869 |
| MSV3d | rs2293869 |
| GWAS Ctlg | rs2293869 |
| GMAF | 0.2608 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2293869(T;T) |
| Alt | rs2293869(T;T) |
| Reference | Rs2293869(A;A) |
| Significance | Other |
| Disease | Hypertriglyceridemia not specified Retinitis Pigmentosa |
| Variation | info |
| Gene | RP1 |
| CLNDBN | Hypertriglyceridemia, susceptibility to not specified Retinitis Pigmentosa, Dominant |
| Reversed | 0 |
| HGVS | NC_000008.10:g.55539395A>T |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006333.3, RCV000081369.5, RCV000337903.1, |
[PMID 20664799
] Differential pattern of RP1 mutations in retinitis pigmentosa.
