rs587780450
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587780450(-;-) |
Make rs587780450(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 165354646 |
Gene | SCN2A |
is a | snp |
is | mentioned by |
dbSNP | rs587780450 |
dbSNP (classic) | rs587780450 |
ClinGen | rs587780450 |
ebi | rs587780450 |
HLI | rs587780450 |
Exac | rs587780450 |
Gnomad | rs587780450 |
Varsome | rs587780450 |
LitVar | rs587780450 |
Map | rs587780450 |
PheGenI | rs587780450 |
Biobank | rs587780450 |
1000 genomes | rs587780450 |
hgdp | rs587780450 |
ensembl | rs587780450 |
geneview | rs587780450 |
scholar | rs587780450 |
rs587780450 | |
pharmgkb | rs587780450 |
gwascentral | rs587780450 |
openSNP | rs587780450 |
23andMe | rs587780450 |
SNPshot | rs587780450 |
SNPdbe | rs587780450 |
MSV3d | rs587780450 |
GWAS Ctlg | rs587780450 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587780450(-;-) |
Alt | rs587780450(-;-) |
Reference | Rs587780450(A;A) |
Significance | Pathogenic |
Disease | Benign familial neonatal-infantile seizures |
Variation | info |
Gene | SCN2A |
CLNDBN | Benign familial neonatal-infantile seizures |
Reversed | 0 |
HGVS | NC_000002.11:g.166211156delA |
CLNSRC | |
CLNACC | RCV000118256.1, |