rs149308952
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs149308952(A;G) |
| Make rs149308952(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 8 |
| Position | 1771524 |
| Gene | CLN8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs149308952 |
| dbSNP (classic) | rs149308952 |
| ClinGen | rs149308952 |
| ebi | rs149308952 |
| HLI | rs149308952 |
| Exac | rs149308952 |
| Gnomad | rs149308952 |
| Varsome | rs149308952 |
| LitVar | rs149308952 |
| Map | rs149308952 |
| PheGenI | rs149308952 |
| Biobank | rs149308952 |
| 1000 genomes | rs149308952 |
| hgdp | rs149308952 |
| ensembl | rs149308952 |
| geneview | rs149308952 |
| scholar | rs149308952 |
| rs149308952 | |
| pharmgkb | rs149308952 |
| gwascentral | rs149308952 |
| openSNP | rs149308952 |
| 23andMe | rs149308952 |
| SNPshot | rs149308952 |
| SNPdbe | rs149308952 |
| MSV3d | rs149308952 |
| GWAS Ctlg | rs149308952 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs149308952(G;G) |
| Alt | rs149308952(G;G) |
| Reference | Rs149308952(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 8 |
| Variation | info |
| Gene | CLN8 |
| CLNDBN | Ceroid lipofuscinosis neuronal 8 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.1719690A>G |
| CLNSRC | |
| CLNACC | RCV000192707.1, |
