rs879253767
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs879253767(-;-) |
Make rs879253767(-;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 165313739 |
Gene | SCN2A |
is a | snp |
is | mentioned by |
dbSNP | rs879253767 |
dbSNP (classic) | rs879253767 |
ClinGen | rs879253767 |
ebi | rs879253767 |
HLI | rs879253767 |
Exac | rs879253767 |
Gnomad | rs879253767 |
Varsome | rs879253767 |
LitVar | rs879253767 |
Map | rs879253767 |
PheGenI | rs879253767 |
Biobank | rs879253767 |
1000 genomes | rs879253767 |
hgdp | rs879253767 |
ensembl | rs879253767 |
geneview | rs879253767 |
scholar | rs879253767 |
rs879253767 | |
pharmgkb | rs879253767 |
gwascentral | rs879253767 |
openSNP | rs879253767 |
23andMe | rs879253767 |
SNPshot | rs879253767 |
SNPdbe | rs879253767 |
MSV3d | rs879253767 |
GWAS Ctlg | rs879253767 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253767(-;-) |
Alt | rs879253767(-;-) |
Reference | Rs879253767(T;T) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 11 |
Variation | info |
Gene | SCN2A |
CLNDBN | Early infantile epileptic encephalopathy 11 |
Reversed | 0 |
HGVS | NC_000002.11:g.166170249delT |
CLNSRC | |
CLNACC | RCV000234961.1, |