rs104894386
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs104894386(A;A) |
| Make rs104894386(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 76995077 |
| Gene | CLN5, FBXL3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894386 |
| dbSNP (classic) | rs104894386 |
| ClinGen | rs104894386 |
| ebi | rs104894386 |
| HLI | rs104894386 |
| Exac | rs104894386 |
| Gnomad | rs104894386 |
| Varsome | rs104894386 |
| LitVar | rs104894386 |
| Map | rs104894386 |
| PheGenI | rs104894386 |
| Biobank | rs104894386 |
| 1000 genomes | rs104894386 |
| hgdp | rs104894386 |
| ensembl | rs104894386 |
| geneview | rs104894386 |
| scholar | rs104894386 |
| rs104894386 | |
| pharmgkb | rs104894386 |
| gwascentral | rs104894386 |
| openSNP | rs104894386 |
| 23andMe | rs104894386 |
| SNPshot | rs104894386 |
| SNPdbe | rs104894386 |
| MSV3d | rs104894386 |
| GWAS Ctlg | rs104894386 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104894386(A;A) rs104894386(C;C) |
| Alt | rs104894386(A;A) rs104894386(C;C) |
| Reference | Rs104894386(G;G) |
| Significance | Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 5 |
| Variation | info |
| Gene | CLN5 |
| CLNDBN | Ceroid lipofuscinosis neuronal 5 |
| Reversed | 0 |
| HGVS | NC_000013.10:g.77569212G>A; NC_000013.10:g.77569212G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002676.4, RCV000049946.1, |
[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
