rs74582884
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs74582884(A;A) |
| Make rs74582884(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 132134369 |
| Gene | KCNQ3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74582884 |
| dbSNP (classic) | rs74582884 |
| ClinGen | rs74582884 |
| ebi | rs74582884 |
| HLI | rs74582884 |
| Exac | rs74582884 |
| Gnomad | rs74582884 |
| Varsome | rs74582884 |
| LitVar | rs74582884 |
| Map | rs74582884 |
| PheGenI | rs74582884 |
| Biobank | rs74582884 |
| 1000 genomes | rs74582884 |
| hgdp | rs74582884 |
| ensembl | rs74582884 |
| geneview | rs74582884 |
| scholar | rs74582884 |
| rs74582884 | |
| pharmgkb | rs74582884 |
| gwascentral | rs74582884 |
| openSNP | rs74582884 |
| 23andMe | rs74582884 |
| SNPshot | rs74582884 |
| SNPdbe | rs74582884 |
| MSV3d | rs74582884 |
| GWAS Ctlg | rs74582884 |
| GMAF | 0.002296 |
| Max Magnitude | 0 |
[PMID 23596459
] Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders
| ClinVar | |
|---|---|
| Risk | rs74582884(A;A) rs74582884(T;T) |
| Alt | rs74582884(A;A) rs74582884(T;T) |
| Reference | Rs74582884(G;G) |
| Significance | Other |
| Disease | Benign familial neonatal seizures 2 not specified Benign familial neonatal seizures Benign Neonatal Epilepsy |
| Variation | info |
| Gene | KCNQ3 |
| CLNDBN | Benign familial neonatal seizures 2 not specified Benign familial neonatal seizures Benign Neonatal Epilepsy |
| Reversed | 0 |
| HGVS | NC_000008.10:g.133146616G>A; NC_000008.10:g.133146616G>T |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000020597.1, RCV000081107.6, RCV000290815.1, RCV000384756.1, RCV000187981.2, |
