rs397515623
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs397515623(C;T) |
| Make rs397515623(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 43169259 |
| Gene | CRYAA, LOC107987300 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397515623 |
| dbSNP (classic) | rs397515623 |
| ClinGen | rs397515623 |
| ebi | rs397515623 |
| HLI | rs397515623 |
| Exac | rs397515623 |
| Gnomad | rs397515623 |
| Varsome | rs397515623 |
| LitVar | rs397515623 |
| Map | rs397515623 |
| PheGenI | rs397515623 |
| Biobank | rs397515623 |
| 1000 genomes | rs397515623 |
| hgdp | rs397515623 |
| ensembl | rs397515623 |
| geneview | rs397515623 |
| scholar | rs397515623 |
| rs397515623 | |
| pharmgkb | rs397515623 |
| gwascentral | rs397515623 |
| openSNP | rs397515623 |
| 23andMe | rs397515623 |
| SNPshot | rs397515623 |
| SNPdbe | rs397515623 |
| MSV3d | rs397515623 |
| GWAS Ctlg | rs397515623 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397515623(T;T) |
| Alt | rs397515623(T;T) |
| Reference | Rs397515623(C;C) |
| Significance | Pathogenic |
| Disease | Cataract Congenital cataract |
| Variation | info |
| Gene | LOC102724652 CRYAA |
| CLNDBN | Cataract, autosomal dominant Congenital cataract |
| Reversed | 0 |
| HGVS | NC_000021.8:g.44589369C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000059326.28, RCV000490766.1, |
