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rs869312669

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312669(A;C)
Make rs869312669(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position13571922
GeneGRIN2B
is asnp
is mentioned by
dbSNPrs869312669
ebirs869312669
HLIrs869312669
Exacrs869312669
Varsomers869312669
Maprs869312669
PheGenIrs869312669
hapmaprs869312669
1000 genomesrs869312669
hgdprs869312669
ensemblrs869312669
gopubmedrs869312669
geneviewrs869312669
scholarrs869312669
googlers869312669
pharmgkbrs869312669
gwascentralrs869312669
openSNPrs869312669
23andMers869312669
23andMe allrs869312669
SNP Nexus

SNPshotrs869312669
SNPdbers869312669
MSV3drs869312669
GWAS Ctlgrs869312669
Max Magnitude0
ClinVar
Risk rs869312669(C;C)
Alt rs869312669(C;C)
Reference rs869312669(A;A)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GRIN2B
CLNDBN Epileptic encephalopathy, early infantile, 27
Reversed 1
HGVS NC_000012.11:g.13724856T>G
CLNSRC
CLNACC RCV000209917.1,