rs746163041
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs746163041(A;A) |
Make rs746163041(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 165344869 |
Gene | SCN2A |
is a | snp |
is | mentioned by |
dbSNP | rs746163041 |
dbSNP (classic) | rs746163041 |
ClinGen | rs746163041 |
ebi | rs746163041 |
HLI | rs746163041 |
Exac | rs746163041 |
Gnomad | rs746163041 |
Varsome | rs746163041 |
LitVar | rs746163041 |
Map | rs746163041 |
PheGenI | rs746163041 |
Biobank | rs746163041 |
1000 genomes | rs746163041 |
hgdp | rs746163041 |
ensembl | rs746163041 |
geneview | rs746163041 |
scholar | rs746163041 |
rs746163041 | |
pharmgkb | rs746163041 |
gwascentral | rs746163041 |
openSNP | rs746163041 |
23andMe | rs746163041 |
SNPshot | rs746163041 |
SNPdbe | rs746163041 |
MSV3d | rs746163041 |
GWAS Ctlg | rs746163041 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746163041(A;A) rs746163041(T;T) |
Alt | rs746163041(A;A) rs746163041(T;T) |
Reference | Rs746163041(C;C) |
Significance | Pathogenic |
Disease | Benign familial neonatal-infantile seizures Early infantile epileptic encephalopathy 11 |
Variation | info |
Gene | SCN2A |
CLNDBN | Benign familial neonatal-infantile seizures Early infantile epileptic encephalopathy 11 |
Reversed | 0 |
HGVS | NC_000002.11:g.166201379C>A |
CLNSRC | |
CLNACC | RCV000461521.1, |