rs750935331
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs750935331(C;T) |
| Make rs750935331(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 13 |
| Position | 77000850 |
| Gene | CLN5, FBXL3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs750935331 |
| dbSNP (classic) | rs750935331 |
| ClinGen | rs750935331 |
| ebi | rs750935331 |
| HLI | rs750935331 |
| Exac | rs750935331 |
| Gnomad | rs750935331 |
| Varsome | rs750935331 |
| LitVar | rs750935331 |
| Map | rs750935331 |
| PheGenI | rs750935331 |
| Biobank | rs750935331 |
| 1000 genomes | rs750935331 |
| hgdp | rs750935331 |
| ensembl | rs750935331 |
| geneview | rs750935331 |
| scholar | rs750935331 |
| rs750935331 | |
| pharmgkb | rs750935331 |
| gwascentral | rs750935331 |
| openSNP | rs750935331 |
| 23andMe | rs750935331 |
| SNPshot | rs750935331 |
| SNPdbe | rs750935331 |
| MSV3d | rs750935331 |
| GWAS Ctlg | rs750935331 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs750935331(G;G) rs750935331(T;T) |
| Alt | rs750935331(G;G) rs750935331(T;T) |
| Reference | Rs750935331(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 5 |
| Variation | info |
| Gene | CLN5 |
| CLNDBN | Ceroid lipofuscinosis neuronal 5 |
| Reversed | 0 |
| HGVS | NC_000013.10:g.77574985C>T |
| CLNSRC | |
| CLNACC | RCV000411598.1, |
