rs886039239
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs886039239(A;G) |
Make rs886039239(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 9764617 |
Gene | GRIN2A |
is a | snp |
is | mentioned by |
dbSNP | rs886039239 |
dbSNP (classic) | rs886039239 |
ClinGen | rs886039239 |
ebi | rs886039239 |
HLI | rs886039239 |
Exac | rs886039239 |
Gnomad | rs886039239 |
Varsome | rs886039239 |
LitVar | rs886039239 |
Map | rs886039239 |
PheGenI | rs886039239 |
Biobank | rs886039239 |
1000 genomes | rs886039239 |
hgdp | rs886039239 |
ensembl | rs886039239 |
geneview | rs886039239 |
scholar | rs886039239 |
rs886039239 | |
pharmgkb | rs886039239 |
gwascentral | rs886039239 |
openSNP | rs886039239 |
23andMe | rs886039239 |
SNPshot | rs886039239 |
SNPdbe | rs886039239 |
MSV3d | rs886039239 |
GWAS Ctlg | rs886039239 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886039239(G;G) |
Alt | rs886039239(G;G) |
Reference | Rs886039239(A;A) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | GRIN2A |
CLNDBN | Epilepsy, focal, with speech disorder and with or without mental retardation |
Reversed | 1 |
HGVS | NC_000016.9:g.9858474T>C |
CLNSRC | |
CLNACC | RCV000254569.1, |