rs794727003
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794727003(A;A) |
Make rs794727003(A;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 165313903 |
Gene | SCN2A |
is a | snp |
is | mentioned by |
dbSNP | rs794727003 |
dbSNP (classic) | rs794727003 |
ClinGen | rs794727003 |
ebi | rs794727003 |
HLI | rs794727003 |
Exac | rs794727003 |
Gnomad | rs794727003 |
Varsome | rs794727003 |
LitVar | rs794727003 |
Map | rs794727003 |
PheGenI | rs794727003 |
Biobank | rs794727003 |
1000 genomes | rs794727003 |
hgdp | rs794727003 |
ensembl | rs794727003 |
geneview | rs794727003 |
scholar | rs794727003 |
rs794727003 | |
pharmgkb | rs794727003 |
gwascentral | rs794727003 |
openSNP | rs794727003 |
23andMe | rs794727003 |
SNPshot | rs794727003 |
SNPdbe | rs794727003 |
MSV3d | rs794727003 |
GWAS Ctlg | rs794727003 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727003(A;A) |
Alt | rs794727003(A;A) |
Reference | Rs794727003(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Benign familial neonatal-infantile seizures Early infantile epileptic encephalopathy 11 |
Variation | info |
Gene | SCN2A |
CLNDBN | not provided Benign familial neonatal-infantile seizures Early infantile epileptic encephalopathy 11 |
Reversed | 0 |
HGVS | NC_000002.11:g.166170413C>A |
CLNSRC | |
CLNACC | RCV000173890.1, RCV000364025.1, RCV000404773.1, |