rs886040861
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs886040861(A;A) |
Make rs886040861(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 48419722 |
Gene | GRIN2D |
is a | snp |
is | mentioned by |
dbSNP | rs886040861 |
dbSNP (classic) | rs886040861 |
ClinGen | rs886040861 |
ebi | rs886040861 |
HLI | rs886040861 |
Exac | rs886040861 |
Gnomad | rs886040861 |
Varsome | rs886040861 |
LitVar | rs886040861 |
Map | rs886040861 |
PheGenI | rs886040861 |
Biobank | rs886040861 |
1000 genomes | rs886040861 |
hgdp | rs886040861 |
ensembl | rs886040861 |
geneview | rs886040861 |
scholar | rs886040861 |
rs886040861 | |
pharmgkb | rs886040861 |
gwascentral | rs886040861 |
openSNP | rs886040861 |
23andMe | rs886040861 |
SNPshot | rs886040861 |
SNPdbe | rs886040861 |
MSV3d | rs886040861 |
GWAS Ctlg | rs886040861 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886040861(A;A) |
Alt | rs886040861(A;A) |
Reference | Rs886040861(G;G) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | GRIN2D |
CLNDBN | Epileptic encephalopathy, early infantile, 46 |
Reversed | 0 |
HGVS | NC_000019.9:g.48922979G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000257970.1, |