rs796052983
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796052983(C;G) |
Make rs796052983(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 166038041 |
Gene | SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs796052983 |
dbSNP (classic) | rs796052983 |
ClinGen | rs796052983 |
ebi | rs796052983 |
HLI | rs796052983 |
Exac | rs796052983 |
Gnomad | rs796052983 |
Varsome | rs796052983 |
LitVar | rs796052983 |
Map | rs796052983 |
PheGenI | rs796052983 |
Biobank | rs796052983 |
1000 genomes | rs796052983 |
hgdp | rs796052983 |
ensembl | rs796052983 |
geneview | rs796052983 |
scholar | rs796052983 |
rs796052983 | |
pharmgkb | rs796052983 |
gwascentral | rs796052983 |
openSNP | rs796052983 |
23andMe | rs796052983 |
SNPshot | rs796052983 |
SNPdbe | rs796052983 |
MSV3d | rs796052983 |
GWAS Ctlg | rs796052983 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052983(G;G) |
Alt | rs796052983(G;G) |
Reference | Rs796052983(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | SCN1A |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.166894551G>C |
CLNSRC | |
CLNACC | RCV000188893.1, |