rs3214759
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 1.5 | probably actually benign, but one report links to cataracts |
| (C;C) | 0 | common in clinvar |
| Make rs3214759(-;-) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 208146054 |
| Gene | CRYGB, LOC100507443 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3214759 |
| dbSNP (classic) | rs3214759 |
| ClinGen | rs3214759 |
| ebi | rs3214759 |
| HLI | rs3214759 |
| Exac | rs3214759 |
| Gnomad | rs3214759 |
| Varsome | rs3214759 |
| LitVar | rs3214759 |
| Map | rs3214759 |
| PheGenI | rs3214759 |
| Biobank | rs3214759 |
| 1000 genomes | rs3214759 |
| hgdp | rs3214759 |
| ensembl | rs3214759 |
| geneview | rs3214759 |
| scholar | rs3214759 |
| rs3214759 | |
| pharmgkb | rs3214759 |
| gwascentral | rs3214759 |
| openSNP | rs3214759 |
| 23andMe | rs3214759 |
| SNPshot | rs3214759 |
| SNPdbe | rs3214759 |
| MSV3d | rs3214759 |
| GWAS Ctlg | rs3214759 |
| Max Magnitude | 1.5 |
aka c.10-38delG
Although the minor (deletion) allele is reported in ClinVar as pathogenic in heterozygous form for a form of cataracts known as Cataract 39 based on [PMID 23288985
], the allele frequency in dbSNP for the "-" allele is around 10%, which may be inconsistent with it being a pathogenic mutation.
| ClinVar | |
|---|---|
| Risk | rs3214759(-;-) |
| Alt | rs3214759(-;-) |
| Reference | Rs3214759(C;C) |
| Significance | Pathogenic |
| Disease | Cataract 39 |
| Variation | info |
| Gene | LOC100507443 CRYGB |
| CLNDBN | Cataract 39, multiple types |
| Reversed | 0 |
| HGVS | NC_000002.11:g.209010778delC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000034855.33, |
