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

rs397514555

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514555(A;A)
Make rs397514555(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position13615626
GeneGRIN2B, LOC105369668
is asnp
is mentioned by
dbSNPrs397514555
dbSNP (classic)rs397514555
ClinGenrs397514555
ebirs397514555
HLIrs397514555
Exacrs397514555
Gnomadrs397514555
Varsomers397514555
LitVarrs397514555
Maprs397514555
PheGenIrs397514555
Biobankrs397514555
1000 genomesrs397514555
hgdprs397514555
ensemblrs397514555
geneviewrs397514555
scholarrs397514555
googlers397514555
pharmgkbrs397514555
gwascentralrs397514555
openSNPrs397514555
23andMers397514555
SNPshotrs397514555
SNPdbers397514555
MSV3drs397514555
GWAS Ctlgrs397514555
Max Magnitude0
ClinVar
Risk rs397514555(A;A)
Alt rs397514555(A;A)
Reference Rs397514555(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene GRIN2B
CLNDBN Mental retardation, autosomal dominant 6
Reversed 1
HGVS NC_000012.11:g.13768560C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032862.28,