rs148862100
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs148862100(A;G) |
| Make rs148862100(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 77000866 |
| Gene | CLN5, FBXL3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148862100 |
| dbSNP (classic) | rs148862100 |
| ClinGen | rs148862100 |
| ebi | rs148862100 |
| HLI | rs148862100 |
| Exac | rs148862100 |
| Gnomad | rs148862100 |
| Varsome | rs148862100 |
| LitVar | rs148862100 |
| Map | rs148862100 |
| PheGenI | rs148862100 |
| Biobank | rs148862100 |
| 1000 genomes | rs148862100 |
| hgdp | rs148862100 |
| ensembl | rs148862100 |
| geneview | rs148862100 |
| scholar | rs148862100 |
| rs148862100 | |
| pharmgkb | rs148862100 |
| gwascentral | rs148862100 |
| openSNP | rs148862100 |
| 23andMe | rs148862100 |
| SNPshot | rs148862100 |
| SNPdbe | rs148862100 |
| MSV3d | rs148862100 |
| GWAS Ctlg | rs148862100 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148862100(G;G) |
| Alt | rs148862100(G;G) |
| Reference | Rs148862100(A;A) |
| Significance | Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 5 not provided |
| Variation | info |
| Gene | CLN5 |
| CLNDBN | Ceroid lipofuscinosis neuronal 5 not provided |
| Reversed | 0 |
| HGVS | NC_000013.10:g.77575001A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002679.3, RCV000493479.1, |
