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rs397514556

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514556(C;T)
Make rs397514556(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position13611847
GeneGRIN2B, LOC105369668
is asnp
is mentioned by
dbSNPrs397514556
dbSNP (classic)rs397514556
ClinGenrs397514556
ebirs397514556
HLIrs397514556
Exacrs397514556
Gnomadrs397514556
Varsomers397514556
LitVarrs397514556
Maprs397514556
PheGenIrs397514556
Biobankrs397514556
1000 genomesrs397514556
hgdprs397514556
ensemblrs397514556
geneviewrs397514556
scholarrs397514556
googlers397514556
pharmgkbrs397514556
gwascentralrs397514556
openSNPrs397514556
23andMers397514556
SNPshotrs397514556
SNPdbers397514556
MSV3drs397514556
GWAS Ctlgrs397514556
Max Magnitude0
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,