rs121909580
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121909580(C;T) |
Make rs121909580(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 63350572 |
Gene | CHRNA4 |
is a | snp |
is | mentioned by |
dbSNP | rs121909580 |
dbSNP (classic) | rs121909580 |
ClinGen | rs121909580 |
ebi | rs121909580 |
HLI | rs121909580 |
Exac | rs121909580 |
Gnomad | rs121909580 |
Varsome | rs121909580 |
LitVar | rs121909580 |
Map | rs121909580 |
PheGenI | rs121909580 |
Biobank | rs121909580 |
1000 genomes | rs121909580 |
hgdp | rs121909580 |
ensembl | rs121909580 |
geneview | rs121909580 |
scholar | rs121909580 |
rs121909580 | |
pharmgkb | rs121909580 |
gwascentral | rs121909580 |
openSNP | rs121909580 |
23andMe | rs121909580 |
SNPshot | rs121909580 |
SNPdbe | rs121909580 |
MSV3d | rs121909580 |
GWAS Ctlg | rs121909580 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909580(T;T) |
Alt | rs121909580(T;T) |
Reference | Rs121909580(C;C) |
Significance | Pathogenic |
Disease | Epilepsy not provided |
Variation | info |
Gene | CHRNA4 |
CLNDBN | Epilepsy, nocturnal frontal lobe, type 1 not provided |
Reversed | 1 |
HGVS | NC_000020.10:g.61981924G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019050.24, RCV000487099.1, |