rs587780454
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587780454(C;C) |
Make rs587780454(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 51794620 |
Gene | SCN8A |
is a | snp |
is | mentioned by |
dbSNP | rs587780454 |
dbSNP (classic) | rs587780454 |
ClinGen | rs587780454 |
ebi | rs587780454 |
HLI | rs587780454 |
Exac | rs587780454 |
Gnomad | rs587780454 |
Varsome | rs587780454 |
LitVar | rs587780454 |
Map | rs587780454 |
PheGenI | rs587780454 |
Biobank | rs587780454 |
1000 genomes | rs587780454 |
hgdp | rs587780454 |
ensembl | rs587780454 |
geneview | rs587780454 |
scholar | rs587780454 |
rs587780454 | |
pharmgkb | rs587780454 |
gwascentral | rs587780454 |
openSNP | rs587780454 |
23andMe | rs587780454 |
SNPshot | rs587780454 |
SNPdbe | rs587780454 |
MSV3d | rs587780454 |
GWAS Ctlg | rs587780454 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780454(C;C) |
Alt | rs587780454(C;C) |
Reference | Rs587780454(G;G) |
Significance | Other |
Disease | Early infantile epileptic encephalopathy 13 |
Variation | info |
Gene | SCN8A |
CLNDBN | Early infantile epileptic encephalopathy 13 |
Reversed | 0 |
HGVS | NC_000012.11:g.52188404G>C |
CLNSRC | |
CLNACC | RCV000118285.2, |