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rs1057519612

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519612(A;G)
Make rs1057519612(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position13567265
GeneGRIN2B
is asnp
is mentioned by
dbSNPrs1057519612
dbSNP (old)rs1057519612
ClinGenrs1057519612
ebirs1057519612
HLIrs1057519612
Exacrs1057519612
Gnomadrs1057519612
Varsomers1057519612
Maprs1057519612
PheGenIrs1057519612
Biobankrs1057519612
1000 genomesrs1057519612
hgdprs1057519612
ensemblrs1057519612
gopubmedrs1057519612
geneviewrs1057519612
scholarrs1057519612
googlers1057519612
pharmgkbrs1057519612
gwascentralrs1057519612
openSNPrs1057519612
23andMers1057519612
23andMe allrs1057519612
SNPshotrs1057519612
SNPdbers1057519612
MSV3drs1057519612
GWAS Ctlgrs1057519612
Max Magnitude0
ClinVar
Risk rs1057519612(G;G)
Alt rs1057519612(G;G)
Reference Rs1057519612(A;A)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene GRIN2B
CLNDBN Mental retardation, autosomal dominant 6
Reversed 1
HGVS NC_000012.11:g.13720199T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022583.27,