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rs1060499526

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs1060499526(-;-)
Make rs1060499526(-;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position13753523
GeneGRIN2B
is asnp
is mentioned by
dbSNPrs1060499526
dbSNP (classic)rs1060499526
ClinGenrs1060499526
ebirs1060499526
HLIrs1060499526
Exacrs1060499526
Gnomadrs1060499526
Varsomers1060499526
LitVarrs1060499526
Maprs1060499526
PheGenIrs1060499526
Biobankrs1060499526
1000 genomesrs1060499526
hgdprs1060499526
ensemblrs1060499526
geneviewrs1060499526
scholarrs1060499526
googlers1060499526
pharmgkbrs1060499526
gwascentralrs1060499526
openSNPrs1060499526
23andMers1060499526
SNPshotrs1060499526
SNPdbers1060499526
MSV3drs1060499526
GWAS Ctlgrs1060499526
Max Magnitude0
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,