rs527236034
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs527236034(A;G) |
Make rs527236034(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 13616545 |
Gene | GRIN2B, LOC105369668 |
is a | snp |
is | mentioned by |
dbSNP | rs527236034 |
dbSNP (classic) | rs527236034 |
ClinGen | rs527236034 |
ebi | rs527236034 |
HLI | rs527236034 |
Exac | rs527236034 |
Gnomad | rs527236034 |
Varsome | rs527236034 |
LitVar | rs527236034 |
Map | rs527236034 |
PheGenI | rs527236034 |
Biobank | rs527236034 |
1000 genomes | rs527236034 |
hgdp | rs527236034 |
ensembl | rs527236034 |
geneview | rs527236034 |
scholar | rs527236034 |
rs527236034 | |
pharmgkb | rs527236034 |
gwascentral | rs527236034 |
openSNP | rs527236034 |
23andMe | rs527236034 |
SNPshot | rs527236034 |
SNPdbe | rs527236034 |
MSV3d | rs527236034 |
GWAS Ctlg | rs527236034 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236034(G;G) |
Alt | rs527236034(G;G) |
Reference | Rs527236034(A;A) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | GRIN2B |
CLNDBN | Mental retardation, autosomal dominant 6 |
Reversed | 1 |
HGVS | NC_000012.11:g.13769479T>C |
CLNSRC | ClinVar |
CLNACC | RCV000132723.1, |