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rs398122824

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122824(A;G)
Make rs398122824(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position13570019
GeneGRIN2B
is asnp
is mentioned by
dbSNPrs398122824
dbSNP (classic)rs398122824
ClinGenrs398122824
ebirs398122824
HLIrs398122824
Exacrs398122824
Gnomadrs398122824
Varsomers398122824
LitVarrs398122824
Maprs398122824
PheGenIrs398122824
Biobankrs398122824
1000 genomesrs398122824
hgdprs398122824
ensemblrs398122824
geneviewrs398122824
scholarrs398122824
googlers398122824
pharmgkbrs398122824
gwascentralrs398122824
openSNPrs398122824
23andMers398122824
SNPshotrs398122824
SNPdbers398122824
MSV3drs398122824
GWAS Ctlgrs398122824
Max Magnitude0
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,