rs1060499526
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs1060499526(-;-) |
Make rs1060499526(-;CA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 13753523 |
Gene | GRIN2B |
is a | snp |
is | mentioned by |
dbSNP | rs1060499526 |
dbSNP (classic) | rs1060499526 |
ClinGen | rs1060499526 |
ebi | rs1060499526 |
HLI | rs1060499526 |
Exac | rs1060499526 |
Gnomad | rs1060499526 |
Varsome | rs1060499526 |
LitVar | rs1060499526 |
Map | rs1060499526 |
PheGenI | rs1060499526 |
Biobank | rs1060499526 |
1000 genomes | rs1060499526 |
hgdp | rs1060499526 |
ensembl | rs1060499526 |
geneview | rs1060499526 |
scholar | rs1060499526 |
rs1060499526 | |
pharmgkb | rs1060499526 |
gwascentral | rs1060499526 |
openSNP | rs1060499526 |
23andMe | rs1060499526 |
SNPshot | rs1060499526 |
SNPdbe | rs1060499526 |
MSV3d | rs1060499526 |
GWAS Ctlg | rs1060499526 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499526(-;-) |
Alt | rs1060499526(-;-) |
Reference | Rs1060499526(CA;CA) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | GRIN2B |
CLNDBN | Mental retardation, autosomal dominant 6 |
Reversed | 1 |
HGVS | NC_000012.11:g.13906457_13906458delTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022581.28, |