rs797045941
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797045941(C;C) |
Make rs797045941(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 166051964 |
Gene | SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs797045941 |
dbSNP (classic) | rs797045941 |
ClinGen | rs797045941 |
ebi | rs797045941 |
HLI | rs797045941 |
Exac | rs797045941 |
Gnomad | rs797045941 |
Varsome | rs797045941 |
LitVar | rs797045941 |
Map | rs797045941 |
PheGenI | rs797045941 |
Biobank | rs797045941 |
1000 genomes | rs797045941 |
hgdp | rs797045941 |
ensembl | rs797045941 |
geneview | rs797045941 |
scholar | rs797045941 |
rs797045941 | |
pharmgkb | rs797045941 |
gwascentral | rs797045941 |
openSNP | rs797045941 |
23andMe | rs797045941 |
SNPshot | rs797045941 |
SNPdbe | rs797045941 |
MSV3d | rs797045941 |
GWAS Ctlg | rs797045941 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045941(C;C) |
Alt | rs797045941(C;C) |
Reference | Rs797045941(T;T) |
Significance | Probable-Pathogenic |
Disease | Seizures |
Variation | info |
Gene | SCN1A |
CLNDBN | Seizures |
Reversed | 1 |
HGVS | NC_000002.11:g.166908474A>G |
CLNSRC | |
CLNACC | RCV000194307.1, |