rs60637
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs60637(A;A) |
| Make rs60637(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 51806958 |
| Gene | SCN8A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs60637 |
| dbSNP (classic) | rs60637 |
| ClinGen | rs60637 |
| ebi | rs60637 |
| HLI | rs60637 |
| Exac | rs60637 |
| Gnomad | rs60637 |
| Varsome | rs60637 |
| LitVar | rs60637 |
| Map | rs60637 |
| PheGenI | rs60637 |
| Biobank | rs60637 |
| 1000 genomes | rs60637 |
| hgdp | rs60637 |
| ensembl | rs60637 |
| geneview | rs60637 |
| scholar | rs60637 |
| rs60637 | |
| pharmgkb | rs60637 |
| gwascentral | rs60637 |
| openSNP | rs60637 |
| 23andMe | rs60637 |
| SNPshot | rs60637 |
| SNPdbe | rs60637 |
| MSV3d | rs60637 |
| GWAS Ctlg | rs60637 |
| GMAF | 0.4279 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 18812204] SCN8A as a novel candidate gene associated with bipolar disorder in the Han Chinese population
| ClinVar | |
|---|---|
| Risk | rs60637(A;A) rs60637(G;G) rs60637(T;T) |
| Alt | rs60637(A;A) rs60637(G;G) rs60637(T;T) |
| Reference | Rs60637(C;C) |
| Significance | Other |
| Disease | not specified Early Infantile Epileptic Encephalopathy |
| Variation | info |
| Gene | SCN8A |
| CLNDBN | not specified Early Infantile Epileptic Encephalopathy, Autosomal Dominant |
| Reversed | 0 |
| HGVS | NC_000012.11:g.52200742C>A; NC_000012.11:g.52200742C>G |
| CLNSRC | ClinVar University of Chicago |
| CLNACC | RCV000118287.4, RCV000268450.1, RCV000440782.1, |
