rs150619347
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs150619347(A;A) |
| Make rs150619347(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 1 |
| Position | 230988440 |
| Gene | ARV1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs150619347 |
| dbSNP (classic) | rs150619347 |
| ClinGen | rs150619347 |
| ebi | rs150619347 |
| HLI | rs150619347 |
| Exac | rs150619347 |
| Gnomad | rs150619347 |
| Varsome | rs150619347 |
| LitVar | rs150619347 |
| Map | rs150619347 |
| PheGenI | rs150619347 |
| Biobank | rs150619347 |
| 1000 genomes | rs150619347 |
| hgdp | rs150619347 |
| ensembl | rs150619347 |
| geneview | rs150619347 |
| scholar | rs150619347 |
| rs150619347 | |
| pharmgkb | rs150619347 |
| gwascentral | rs150619347 |
| openSNP | rs150619347 |
| 23andMe | rs150619347 |
| SNPshot | rs150619347 |
| SNPdbe | rs150619347 |
| MSV3d | rs150619347 |
| GWAS Ctlg | rs150619347 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs150619347(A;A) |
| Alt | rs150619347(A;A) |
| Reference | Rs150619347(G;G) |
| Significance | Pathogenic |
| Disease | ARV1-related condition Epileptic encephalopathy |
| Variation | info |
| Gene | ARV1 |
| CLNDBN | ARV1-related condition Epileptic encephalopathy, early infantile, 38 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.231124186G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000234848.1, RCV000235015.2, |
