rs281865071
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281865071(C;G) |
Make rs281865071(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 154571759 |
Gene | CHRNB2 |
is a | snp |
is | mentioned by |
dbSNP | rs281865071 |
dbSNP (classic) | rs281865071 |
ClinGen | rs281865071 |
ebi | rs281865071 |
HLI | rs281865071 |
Exac | rs281865071 |
Gnomad | rs281865071 |
Varsome | rs281865071 |
LitVar | rs281865071 |
Map | rs281865071 |
PheGenI | rs281865071 |
Biobank | rs281865071 |
1000 genomes | rs281865071 |
hgdp | rs281865071 |
ensembl | rs281865071 |
geneview | rs281865071 |
scholar | rs281865071 |
rs281865071 | |
pharmgkb | rs281865071 |
gwascentral | rs281865071 |
openSNP | rs281865071 |
23andMe | rs281865071 |
SNPshot | rs281865071 |
SNPdbe | rs281865071 |
MSV3d | rs281865071 |
GWAS Ctlg | rs281865071 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865071(G;G) |
Alt | rs281865071(G;G) |
Reference | Rs281865071(C;C) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | CHRNB2 |
CLNDBN | Epilepsy, nocturnal frontal lobe, type 3 |
Reversed | 0 |
HGVS | NC_000001.10:g.154544235C>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000033933.2, |