rs281865068
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281865068(A;A) |
Make rs281865068(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 63350404 |
Gene | CHRNA4 |
is a | snp |
is | mentioned by |
dbSNP | rs281865068 |
dbSNP (classic) | rs281865068 |
ClinGen | rs281865068 |
ebi | rs281865068 |
HLI | rs281865068 |
Exac | rs281865068 |
Gnomad | rs281865068 |
Varsome | rs281865068 |
LitVar | rs281865068 |
Map | rs281865068 |
PheGenI | rs281865068 |
Biobank | rs281865068 |
1000 genomes | rs281865068 |
hgdp | rs281865068 |
ensembl | rs281865068 |
geneview | rs281865068 |
scholar | rs281865068 |
rs281865068 | |
pharmgkb | rs281865068 |
gwascentral | rs281865068 |
openSNP | rs281865068 |
23andMe | rs281865068 |
SNPshot | rs281865068 |
SNPdbe | rs281865068 |
MSV3d | rs281865068 |
GWAS Ctlg | rs281865068 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865068(A;A) |
Alt | rs281865068(A;A) |
Reference | Rs281865068(G;G) |
Significance | Pathogenic |
Disease | Epilepsy Autosomal dominant nocturnal frontal lobe epilepsy |
Variation | info |
Gene | CHRNA4 |
CLNDBN | Epilepsy, nocturnal frontal lobe, type 1 Autosomal dominant nocturnal frontal lobe epilepsy |
Reversed | 1 |
HGVS | NC_000020.10:g.61981756C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000033926.2, RCV000462397.1, |