rs121917751
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121917751(A;A) |
Make rs121917751(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 165344666 |
Gene | SCN2A |
is a | snp |
is | mentioned by |
dbSNP | rs121917751 |
dbSNP (classic) | rs121917751 |
ClinGen | rs121917751 |
ebi | rs121917751 |
HLI | rs121917751 |
Exac | rs121917751 |
Gnomad | rs121917751 |
Varsome | rs121917751 |
LitVar | rs121917751 |
Map | rs121917751 |
PheGenI | rs121917751 |
Biobank | rs121917751 |
1000 genomes | rs121917751 |
hgdp | rs121917751 |
ensembl | rs121917751 |
geneview | rs121917751 |
scholar | rs121917751 |
rs121917751 | |
pharmgkb | rs121917751 |
gwascentral | rs121917751 |
openSNP | rs121917751 |
23andMe | rs121917751 |
SNPshot | rs121917751 |
SNPdbe | rs121917751 |
MSV3d | rs121917751 |
GWAS Ctlg | rs121917751 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917751(A;A) |
Alt | rs121917751(A;A) |
Reference | Rs121917751(G;G) |
Significance | Pathogenic |
Disease | Benign familial neonatal-infantile seizures not provided |
Variation | info |
Gene | SCN2A |
CLNDBN | Benign familial neonatal-infantile seizures not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.166201176G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013738.18, RCV000189121.1, |