rs121918844
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common/normal |
| Make rs121918844(-;T) |
| Make rs121918844(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 68444664 |
| Gene | RPE65 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918844 |
| dbSNP (classic) | rs121918844 |
| ClinGen | rs121918844 |
| ebi | rs121918844 |
| HLI | rs121918844 |
| Exac | rs121918844 |
| Gnomad | rs121918844 |
| Varsome | rs121918844 |
| LitVar | rs121918844 |
| Map | rs121918844 |
| PheGenI | rs121918844 |
| Biobank | rs121918844 |
| 1000 genomes | rs121918844 |
| hgdp | rs121918844 |
| ensembl | rs121918844 |
| geneview | rs121918844 |
| scholar | rs121918844 |
| rs121918844 | |
| pharmgkb | rs121918844 |
| gwascentral | rs121918844 |
| openSNP | rs121918844 |
| 23andMe | rs121918844 |
| SNPshot | rs121918844 |
| SNPdbe | rs121918844 |
| MSV3d | rs121918844 |
| GWAS Ctlg | rs121918844 |
| Max Magnitude | 0 |
[PMID 26334176
] This SNP is included in a curated list of mutations useful to include on an Ashkenazi Jews screening panel.
aka c.361dupT; Leber congenital amaurosis 2?
