rs796053047
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796053047(-;-) |
Make rs796053047(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 166047658 |
Gene | SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs796053047 |
dbSNP (classic) | rs796053047 |
ClinGen | rs796053047 |
ebi | rs796053047 |
HLI | rs796053047 |
Exac | rs796053047 |
Gnomad | rs796053047 |
Varsome | rs796053047 |
LitVar | rs796053047 |
Map | rs796053047 |
PheGenI | rs796053047 |
Biobank | rs796053047 |
1000 genomes | rs796053047 |
hgdp | rs796053047 |
ensembl | rs796053047 |
geneview | rs796053047 |
scholar | rs796053047 |
rs796053047 | |
pharmgkb | rs796053047 |
gwascentral | rs796053047 |
openSNP | rs796053047 |
23andMe | rs796053047 |
SNPshot | rs796053047 |
SNPdbe | rs796053047 |
MSV3d | rs796053047 |
GWAS Ctlg | rs796053047 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796053047(-;-) |
Alt | rs796053047(-;-) |
Reference | Rs796053047(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | SCN1A |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.166904168delG |
CLNSRC | |
CLNACC | RCV000189018.1, |