rs796065029
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs796065029(-;G) |
| Make rs796065029(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 228158453 |
| Gene | GJC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs796065029 |
| dbSNP (classic) | rs796065029 |
| ClinGen | rs796065029 |
| ebi | rs796065029 |
| HLI | rs796065029 |
| Exac | rs796065029 |
| Gnomad | rs796065029 |
| Varsome | rs796065029 |
| LitVar | rs796065029 |
| Map | rs796065029 |
| PheGenI | rs796065029 |
| Biobank | rs796065029 |
| 1000 genomes | rs796065029 |
| hgdp | rs796065029 |
| ensembl | rs796065029 |
| geneview | rs796065029 |
| scholar | rs796065029 |
| rs796065029 | |
| pharmgkb | rs796065029 |
| gwascentral | rs796065029 |
| openSNP | rs796065029 |
| 23andMe | rs796065029 |
| SNPshot | rs796065029 |
| SNPdbe | rs796065029 |
| MSV3d | rs796065029 |
| GWAS Ctlg | rs796065029 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs796065029(G;G) |
| Alt | rs796065029(G;G) |
| Reference | Rs796065029(-;-) |
| Significance | Pathogenic |
| Disease | Leukodystrophy |
| Variation | info |
| Gene | GJC2 |
| CLNDBN | Leukodystrophy, hypomyelinating, 2 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.228346154_228346155insG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002158.5, |
