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rs1057518700

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518700(C;C)
Make rs1057518700(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position13608792
GeneGRIN2B, LOC105369668
is asnp
is mentioned by
dbSNPrs1057518700
dbSNP (old)rs1057518700
ClinGenrs1057518700
ebirs1057518700
HLIrs1057518700
Exacrs1057518700
Gnomadrs1057518700
Varsomers1057518700
Maprs1057518700
PheGenIrs1057518700
Biobankrs1057518700
1000 genomesrs1057518700
hgdprs1057518700
ensemblrs1057518700
gopubmedrs1057518700
geneviewrs1057518700
scholarrs1057518700
googlers1057518700
pharmgkbrs1057518700
gwascentralrs1057518700
openSNPrs1057518700
23andMers1057518700
23andMe allrs1057518700
SNPshotrs1057518700
SNPdbers1057518700
MSV3drs1057518700
GWAS Ctlgrs1057518700
Max Magnitude0
ClinVar
Risk rs1057518700(C;C)
Alt rs1057518700(C;C)
Reference Rs1057518700(G;G)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene GRIN2B
CLNDBN Mental retardation, autosomal dominant 6
Reversed 1
HGVS NC_000012.11:g.13761726C>G
CLNSRC
CLNACC RCV000414856.1,