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rs397518467

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518467(C;G)
Make rs397518467(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position9764715
GeneGRIN2A
is asnp
is mentioned by
dbSNPrs397518467
ebirs397518467
HLIrs397518467
Exacrs397518467
Varsomers397518467
Maprs397518467
PheGenIrs397518467
hapmaprs397518467
1000 genomesrs397518467
hgdprs397518467
ensemblrs397518467
gopubmedrs397518467
geneviewrs397518467
scholarrs397518467
googlers397518467
pharmgkbrs397518467
gwascentralrs397518467
openSNPrs397518467
23andMers397518467
23andMe allrs397518467
SNP Nexus

SNPshotrs397518467
SNPdbers397518467
MSV3drs397518467
GWAS Ctlgrs397518467
Max Magnitude0
ClinVar
Risk rs397518467(G;G)
Alt rs397518467(G;G)
Reference rs397518467(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene GRIN2A
CLNDBN Epilepsy, focal, with speech disorder and with or without mental retardation
Reversed 1
HGVS NC_000016.9:g.9858572G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000074388.27,