rs397514556
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397514556(C;T) |
Make rs397514556(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 13611847 |
Gene | GRIN2B, LOC105369668 |
is a | snp |
is | mentioned by |
dbSNP | rs397514556 |
dbSNP (classic) | rs397514556 |
ClinGen | rs397514556 |
ebi | rs397514556 |
HLI | rs397514556 |
Exac | rs397514556 |
Gnomad | rs397514556 |
Varsome | rs397514556 |
LitVar | rs397514556 |
Map | rs397514556 |
PheGenI | rs397514556 |
Biobank | rs397514556 |
1000 genomes | rs397514556 |
hgdp | rs397514556 |
ensembl | rs397514556 |
geneview | rs397514556 |
scholar | rs397514556 |
rs397514556 | |
pharmgkb | rs397514556 |
gwascentral | rs397514556 |
openSNP | rs397514556 |
23andMe | rs397514556 |
SNPshot | rs397514556 |
SNPdbe | rs397514556 |
MSV3d | rs397514556 |
GWAS Ctlg | rs397514556 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514556(T;T) |
Alt | rs397514556(T;T) |
Reference | Rs397514556(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | GRIN2B |
CLNDBN | Mental retardation, autosomal dominant 6 |
Reversed | 1 |
HGVS | NC_000012.11:g.13764781G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000032865.28, |