rs187500777
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common/normal |
| Make rs187500777(A;G) |
| Make rs187500777(G;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 10 |
| Position | 69315762 |
| Gene | HK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs187500777 |
| dbSNP (classic) | rs187500777 |
| ClinGen | rs187500777 |
| ebi | rs187500777 |
| HLI | rs187500777 |
| Exac | rs187500777 |
| Gnomad | rs187500777 |
| Varsome | rs187500777 |
| LitVar | rs187500777 |
| Map | rs187500777 |
| PheGenI | rs187500777 |
| Biobank | rs187500777 |
| 1000 genomes | rs187500777 |
| hgdp | rs187500777 |
| ensembl | rs187500777 |
| geneview | rs187500777 |
| scholar | rs187500777 |
| rs187500777 | |
| pharmgkb | rs187500777 |
| gwascentral | rs187500777 |
| openSNP | rs187500777 |
| 23andMe | rs187500777 |
| SNPshot | rs187500777 |
| SNPdbe | rs187500777 |
| MSV3d | rs187500777 |
| GWAS Ctlg | rs187500777 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.
