rs398122823
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398122823(-;G) |
Make rs398122823(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 13866109 |
Gene | GRIN2B |
is a | snp |
is | mentioned by |
dbSNP | rs398122823 |
dbSNP (classic) | rs398122823 |
ClinGen | rs398122823 |
ebi | rs398122823 |
HLI | rs398122823 |
Exac | rs398122823 |
Gnomad | rs398122823 |
Varsome | rs398122823 |
LitVar | rs398122823 |
Map | rs398122823 |
PheGenI | rs398122823 |
Biobank | rs398122823 |
1000 genomes | rs398122823 |
hgdp | rs398122823 |
ensembl | rs398122823 |
geneview | rs398122823 |
scholar | rs398122823 |
rs398122823 | |
pharmgkb | rs398122823 |
gwascentral | rs398122823 |
openSNP | rs398122823 |
23andMe | rs398122823 |
SNPshot | rs398122823 |
SNPdbe | rs398122823 |
MSV3d | rs398122823 |
GWAS Ctlg | rs398122823 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122823(G;G) |
Alt | rs398122823(G;G) |
Reference | Rs398122823(-;-) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | GRIN2B |
CLNDBN | Mental retardation, autosomal dominant 6 |
Reversed | 0 |
HGVS | NC_000012.11:g.14019044dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032861.27, |