rs587776903
From SNPedia
| Orientation | plus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (G;G) | 0 | common in clinvar |
| Make rs587776903(C;T) |
| Make rs587776903(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 90916206 |
| Gene | ZNF644 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776903 |
| dbSNP (classic) | rs587776903 |
| ClinGen | rs587776903 |
| ebi | rs587776903 |
| HLI | rs587776903 |
| Exac | rs587776903 |
| Gnomad | rs587776903 |
| Varsome | rs587776903 |
| LitVar | rs587776903 |
| Map | rs587776903 |
| PheGenI | rs587776903 |
| Biobank | rs587776903 |
| 1000 genomes | rs587776903 |
| hgdp | rs587776903 |
| ensembl | rs587776903 |
| geneview | rs587776903 |
| scholar | rs587776903 |
| rs587776903 | |
| pharmgkb | rs587776903 |
| gwascentral | rs587776903 |
| openSNP | rs587776903 |
| 23andMe | rs587776903 |
| SNPshot | rs587776903 |
| SNPdbe | rs587776903 |
| MSV3d | rs587776903 |
| GWAS Ctlg | rs587776903 |
| 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.
| ClinVar | |
|---|---|
| Risk | Rs587776903(C;C) rs587776903(T;T) |
| Alt | Rs587776903(C;C) rs587776903(T;T) |
| Reference | Rs587776903(G;G) |
| Significance | Pathogenic |
| Disease | Myopia 21 |
| Variation | info |
| Gene | ZNF644 |
| CLNDBN | Myopia 21, autosomal dominant |
| Reversed | 1 |
| HGVS | NC_000001.10:g.91381763C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000024105.3, |
