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, |