rs796053100
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs796053100(C;C) |
Make rs796053100(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 165992086 |
Gene | LOC102724058, SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs796053100 |
dbSNP (classic) | rs796053100 |
ClinGen | rs796053100 |
ebi | rs796053100 |
HLI | rs796053100 |
Exac | rs796053100 |
Gnomad | rs796053100 |
Varsome | rs796053100 |
LitVar | rs796053100 |
Map | rs796053100 |
PheGenI | rs796053100 |
Biobank | rs796053100 |
1000 genomes | rs796053100 |
hgdp | rs796053100 |
ensembl | rs796053100 |
geneview | rs796053100 |
scholar | rs796053100 |
rs796053100 | |
pharmgkb | rs796053100 |
gwascentral | rs796053100 |
openSNP | rs796053100 |
23andMe | rs796053100 |
SNPshot | rs796053100 |
SNPdbe | rs796053100 |
MSV3d | rs796053100 |
GWAS Ctlg | rs796053100 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796053100(C;C) |
Alt | rs796053100(C;C) |
Reference | Rs796053100(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | LOC102724058 SCN1A |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.166848596A>G |
CLNSRC | |
CLNACC | RCV000189092.2, |