rs562208324
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs562208324(A;G) |
Make rs562208324(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 165991594 |
Gene | LOC102724058, SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs562208324 |
dbSNP (classic) | rs562208324 |
ClinGen | rs562208324 |
ebi | rs562208324 |
HLI | rs562208324 |
Exac | rs562208324 |
Gnomad | rs562208324 |
Varsome | rs562208324 |
LitVar | rs562208324 |
Map | rs562208324 |
PheGenI | rs562208324 |
Biobank | rs562208324 |
1000 genomes | rs562208324 |
hgdp | rs562208324 |
ensembl | rs562208324 |
geneview | rs562208324 |
scholar | rs562208324 |
rs562208324 | |
pharmgkb | rs562208324 |
gwascentral | rs562208324 |
openSNP | rs562208324 |
23andMe | rs562208324 |
SNPshot | rs562208324 |
SNPdbe | rs562208324 |
MSV3d | rs562208324 |
GWAS Ctlg | rs562208324 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs562208324(G;G) |
Alt | rs562208324(G;G) |
Reference | Rs562208324(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | LOC102724058 SCN1A |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.166848104A>G |
CLNSRC | |
CLNACC | RCV000189015.2, |