rs796053130
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796053130(C;T) |
Make rs796053130(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 165373322 |
Gene | SCN2A |
is a | snp |
is | mentioned by |
dbSNP | rs796053130 |
dbSNP (classic) | rs796053130 |
ClinGen | rs796053130 |
ebi | rs796053130 |
HLI | rs796053130 |
Exac | rs796053130 |
Gnomad | rs796053130 |
Varsome | rs796053130 |
LitVar | rs796053130 |
Map | rs796053130 |
PheGenI | rs796053130 |
Biobank | rs796053130 |
1000 genomes | rs796053130 |
hgdp | rs796053130 |
ensembl | rs796053130 |
geneview | rs796053130 |
scholar | rs796053130 |
rs796053130 | |
pharmgkb | rs796053130 |
gwascentral | rs796053130 |
openSNP | rs796053130 |
23andMe | rs796053130 |
SNPshot | rs796053130 |
SNPdbe | rs796053130 |
MSV3d | rs796053130 |
GWAS Ctlg | rs796053130 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796053130(T;T) |
Alt | rs796053130(T;T) |
Reference | Rs796053130(C;C) |
Significance | Pathogenic |
Disease | not provided Epileptic encephalopathy |
Variation | info |
Gene | SCN2A |
CLNDBN | not provided Epileptic encephalopathy |
Reversed | 0 |
HGVS | NC_000002.11:g.166229832C>T |
CLNSRC | |
CLNACC | RCV000189141.2, RCV000416964.1, |