Have questions? Visit https://www.reddit.com/r/SNPedia

rs387906636

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906636(C;T)
Make rs387906636(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position13571931
GeneGRIN2B
is asnp
is mentioned by
dbSNPrs387906636
dbSNP (classic)rs387906636
ClinGenrs387906636
ebirs387906636
HLIrs387906636
Exacrs387906636
Gnomadrs387906636
Varsomers387906636
LitVarrs387906636
Maprs387906636
PheGenIrs387906636
Biobankrs387906636
1000 genomesrs387906636
hgdprs387906636
ensemblrs387906636
geneviewrs387906636
scholarrs387906636
googlers387906636
pharmgkbrs387906636
gwascentralrs387906636
openSNPrs387906636
23andMers387906636
SNPshotrs387906636
SNPdbers387906636
MSV3drs387906636
GWAS Ctlgrs387906636
Max Magnitude0
ClinVar
Risk rs387906636(T;T)
Alt rs387906636(T;T)
Reference Rs387906636(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene GRIN2B
CLNDBN Mental retardation, autosomal dominant 6
Reversed 1
HGVS NC_000012.11:g.13724865G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022582.27,