rs370521183
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs370521183(C;T) |
| Make rs370521183(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 9 |
| Position | 135775346 |
| Gene | KCNT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs370521183 |
| dbSNP (classic) | rs370521183 |
| ClinGen | rs370521183 |
| ebi | rs370521183 |
| HLI | rs370521183 |
| Exac | rs370521183 |
| Gnomad | rs370521183 |
| Varsome | rs370521183 |
| LitVar | rs370521183 |
| Map | rs370521183 |
| PheGenI | rs370521183 |
| Biobank | rs370521183 |
| 1000 genomes | rs370521183 |
| hgdp | rs370521183 |
| ensembl | rs370521183 |
| geneview | rs370521183 |
| scholar | rs370521183 |
| rs370521183 | |
| pharmgkb | rs370521183 |
| gwascentral | rs370521183 |
| openSNP | rs370521183 |
| 23andMe | rs370521183 |
| SNPshot | rs370521183 |
| SNPdbe | rs370521183 |
| MSV3d | rs370521183 |
| GWAS Ctlg | rs370521183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs370521183(A;A) rs370521183(G;G) rs370521183(T;T) |
| Alt | rs370521183(A;A) rs370521183(G;G) rs370521183(T;T) |
| Reference | Rs370521183(C;C) |
| Significance | Pathogenic |
| Disease | Early infantile epileptic encephalopathy 14 not provided |
| Variation | info |
| Gene | KCNT1 |
| CLNDBN | Early infantile epileptic encephalopathy 14 not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.138667192C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000032796.3, RCV000413294.1, |
