rs796052991
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796052991(A;A) |
Make rs796052991(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 166036483 |
Gene | LOC102724058, SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs796052991 |
dbSNP (classic) | rs796052991 |
ClinGen | rs796052991 |
ebi | rs796052991 |
HLI | rs796052991 |
Exac | rs796052991 |
Gnomad | rs796052991 |
Varsome | rs796052991 |
LitVar | rs796052991 |
Map | rs796052991 |
PheGenI | rs796052991 |
Biobank | rs796052991 |
1000 genomes | rs796052991 |
hgdp | rs796052991 |
ensembl | rs796052991 |
geneview | rs796052991 |
scholar | rs796052991 |
rs796052991 | |
pharmgkb | rs796052991 |
gwascentral | rs796052991 |
openSNP | rs796052991 |
23andMe | rs796052991 |
SNPshot | rs796052991 |
SNPdbe | rs796052991 |
MSV3d | rs796052991 |
GWAS Ctlg | rs796052991 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796052991(A;A) |
Alt | rs796052991(A;A) |
Reference | Rs796052991(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | LOC102724058 SCN1A |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.166892993G>T |
CLNSRC | |
CLNACC | RCV000188907.2, |