rs796053216
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs796053216(A;A) |
Make rs796053216(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 51790401 |
Gene | SCN8A |
is a | snp |
is | mentioned by |
dbSNP | rs796053216 |
dbSNP (classic) | rs796053216 |
ClinGen | rs796053216 |
ebi | rs796053216 |
HLI | rs796053216 |
Exac | rs796053216 |
Gnomad | rs796053216 |
Varsome | rs796053216 |
LitVar | rs796053216 |
Map | rs796053216 |
PheGenI | rs796053216 |
Biobank | rs796053216 |
1000 genomes | rs796053216 |
hgdp | rs796053216 |
ensembl | rs796053216 |
geneview | rs796053216 |
scholar | rs796053216 |
rs796053216 | |
pharmgkb | rs796053216 |
gwascentral | rs796053216 |
openSNP | rs796053216 |
23andMe | rs796053216 |
SNPshot | rs796053216 |
SNPdbe | rs796053216 |
MSV3d | rs796053216 |
GWAS Ctlg | rs796053216 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796053216(A;A) |
Alt | rs796053216(A;A) |
Reference | Rs796053216(G;G) |
Significance | Pathogenic |
Disease | not provided Epileptic encephalopathy Early infantile epileptic encephalopathy |
Variation | info |
Gene | SCN8A |
CLNDBN | not provided Epileptic encephalopathy Early infantile epileptic encephalopathy |
Reversed | 0 |
HGVS | NC_000012.11:g.52184185G>A |
CLNSRC | |
CLNACC | RCV000189277.2, RCV000416962.1, RCV000462091.1, |