rs281865066
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281865066(C;T) |
Make rs281865066(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 63350533 |
Gene | CHRNA4 |
is a | snp |
is | mentioned by |
dbSNP | rs281865066 |
dbSNP (classic) | rs281865066 |
ClinGen | rs281865066 |
ebi | rs281865066 |
HLI | rs281865066 |
Exac | rs281865066 |
Gnomad | rs281865066 |
Varsome | rs281865066 |
LitVar | rs281865066 |
Map | rs281865066 |
PheGenI | rs281865066 |
Biobank | rs281865066 |
1000 genomes | rs281865066 |
hgdp | rs281865066 |
ensembl | rs281865066 |
geneview | rs281865066 |
scholar | rs281865066 |
rs281865066 | |
pharmgkb | rs281865066 |
gwascentral | rs281865066 |
openSNP | rs281865066 |
23andMe | rs281865066 |
SNPshot | rs281865066 |
SNPdbe | rs281865066 |
MSV3d | rs281865066 |
GWAS Ctlg | rs281865066 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865066(T;T) |
Alt | rs281865066(T;T) |
Reference | Rs281865066(C;C) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | CHRNA4 |
CLNDBN | Epilepsy, nocturnal frontal lobe, type 1 |
Reversed | 1 |
HGVS | NC_000020.10:g.61981885G>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000033928.2, |