rs104894063
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs104894063(A;A) |
Make rs104894063(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 27463607 |
Gene | CHRNA2 |
is a | snp |
is | mentioned by |
dbSNP | rs104894063 |
dbSNP (classic) | rs104894063 |
ClinGen | rs104894063 |
ebi | rs104894063 |
HLI | rs104894063 |
Exac | rs104894063 |
Gnomad | rs104894063 |
Varsome | rs104894063 |
LitVar | rs104894063 |
Map | rs104894063 |
PheGenI | rs104894063 |
Biobank | rs104894063 |
1000 genomes | rs104894063 |
hgdp | rs104894063 |
ensembl | rs104894063 |
geneview | rs104894063 |
scholar | rs104894063 |
rs104894063 | |
pharmgkb | rs104894063 |
gwascentral | rs104894063 |
openSNP | rs104894063 |
23andMe | rs104894063 |
SNPshot | rs104894063 |
SNPdbe | rs104894063 |
MSV3d | rs104894063 |
GWAS Ctlg | rs104894063 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894063(A;A) |
Alt | rs104894063(A;A) |
Reference | Rs104894063(T;T) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | CHRNA2 |
CLNDBN | Epilepsy, nocturnal frontal lobe, type 4 |
Reversed | 1 |
HGVS | NC_000008.10:g.27321124A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019056.27, |