rs148412181
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs148412181(C;T) |
| Make rs148412181(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 40080483 |
| Gene | PPT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148412181 |
| dbSNP (classic) | rs148412181 |
| ClinGen | rs148412181 |
| ebi | rs148412181 |
| HLI | rs148412181 |
| Exac | rs148412181 |
| Gnomad | rs148412181 |
| Varsome | rs148412181 |
| LitVar | rs148412181 |
| Map | rs148412181 |
| PheGenI | rs148412181 |
| Biobank | rs148412181 |
| 1000 genomes | rs148412181 |
| hgdp | rs148412181 |
| ensembl | rs148412181 |
| geneview | rs148412181 |
| scholar | rs148412181 |
| rs148412181 | |
| pharmgkb | rs148412181 |
| gwascentral | rs148412181 |
| openSNP | rs148412181 |
| 23andMe | rs148412181 |
| SNPshot | rs148412181 |
| SNPdbe | rs148412181 |
| MSV3d | rs148412181 |
| GWAS Ctlg | rs148412181 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148412181(A;A) rs148412181(T;T) |
| Alt | rs148412181(A;A) rs148412181(T;T) |
| Reference | Rs148412181(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 1 not provided |
| Variation | info |
| Gene | PPT1 |
| CLNDBN | Ceroid lipofuscinosis neuronal 1 not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.40546155C>A; NC_000001.10:g.40546155C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000049613.1, RCV000436288.1, RCV000169209.1, |
[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
