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rs1057519611

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519611(A;A)
Make rs1057519611(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position13865797
GeneGRIN2B
is asnp
is mentioned by
dbSNPrs1057519611
dbSNP (old)rs1057519611
ClinGenrs1057519611
ebirs1057519611
HLIrs1057519611
Exacrs1057519611
Gnomadrs1057519611
Varsomers1057519611
LitVarrs1057519611
Maprs1057519611
PheGenIrs1057519611
Biobankrs1057519611
1000 genomesrs1057519611
hgdprs1057519611
ensemblrs1057519611
gopubmedrs1057519611
geneviewrs1057519611
scholarrs1057519611
googlers1057519611
pharmgkbrs1057519611
gwascentralrs1057519611
openSNPrs1057519611
23andMers1057519611
23andMe allrs1057519611
SNPshotrs1057519611
SNPdbers1057519611
MSV3drs1057519611
GWAS Ctlgrs1057519611
Max Magnitude0
ClinVar
Risk rs1057519611(A;A)
Alt rs1057519611(A;A)
Reference Rs1057519611(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene GRIN2B
CLNDBN Mental retardation, autosomal dominant 6
Reversed 1
HGVS NC_000012.11:g.14018731C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022580.27,