rs587776892
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CCT;CCT) | 0 | common in clinvar |
| Make rs587776892(-;-) |
| Make rs587776892(-;CTC) |
| Make rs587776892(CTC;CTC) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 20 |
| Position | 63930875 |
| Gene | DNAJC5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776892 |
| dbSNP (classic) | rs587776892 |
| ClinGen | rs587776892 |
| ebi | rs587776892 |
| HLI | rs587776892 |
| Exac | rs587776892 |
| Gnomad | rs587776892 |
| Varsome | rs587776892 |
| LitVar | rs587776892 |
| Map | rs587776892 |
| PheGenI | rs587776892 |
| Biobank | rs587776892 |
| 1000 genomes | rs587776892 |
| hgdp | rs587776892 |
| ensembl | rs587776892 |
| geneview | rs587776892 |
| scholar | rs587776892 |
| rs587776892 | |
| pharmgkb | rs587776892 |
| gwascentral | rs587776892 |
| openSNP | rs587776892 |
| 23andMe | rs587776892 |
| SNPshot | rs587776892 |
| SNPdbe | rs587776892 |
| MSV3d | rs587776892 |
| GWAS Ctlg | rs587776892 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs587776892(-;-) |
| Alt | rs587776892(-;-) |
| Reference | Rs587776892(CCT;CCT) |
| Significance | Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 4B autosomal dominant |
| Variation | info |
| Gene | DNAJC5 |
| CLNDBN | Ceroid lipofuscinosis neuronal 4B autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000020.10:g.62562228_62562230delCTC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023878.5, |
