rs398122824
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398122824(A;G) |
Make rs398122824(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 13570019 |
Gene | GRIN2B |
is a | snp |
is | mentioned by |
dbSNP | rs398122824 |
dbSNP (classic) | rs398122824 |
ClinGen | rs398122824 |
ebi | rs398122824 |
HLI | rs398122824 |
Exac | rs398122824 |
Gnomad | rs398122824 |
Varsome | rs398122824 |
LitVar | rs398122824 |
Map | rs398122824 |
PheGenI | rs398122824 |
Biobank | rs398122824 |
1000 genomes | rs398122824 |
hgdp | rs398122824 |
ensembl | rs398122824 |
geneview | rs398122824 |
scholar | rs398122824 |
rs398122824 | |
pharmgkb | rs398122824 |
gwascentral | rs398122824 |
openSNP | rs398122824 |
23andMe | rs398122824 |
SNPshot | rs398122824 |
SNPdbe | rs398122824 |
MSV3d | rs398122824 |
GWAS Ctlg | rs398122824 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122824(G;G) |
Alt | rs398122824(G;G) |
Reference | Rs398122824(A;A) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | GRIN2B |
CLNDBN | Mental retardation, autosomal dominant 6 |
Reversed | 1 |
HGVS | NC_000012.11:g.13722953T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032863.27, |