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rs397518468

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518468(C;T)
Make rs397518468(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position9840706
GeneGRIN2A
is asnp
is mentioned by
dbSNPrs397518468
ebirs397518468
HLIrs397518468
Exacrs397518468
Varsomers397518468
Maprs397518468
PheGenIrs397518468
hapmaprs397518468
1000 genomesrs397518468
hgdprs397518468
ensemblrs397518468
gopubmedrs397518468
geneviewrs397518468
scholarrs397518468
googlers397518468
pharmgkbrs397518468
gwascentralrs397518468
openSNPrs397518468
23andMers397518468
23andMe allrs397518468
SNP Nexus

SNPshotrs397518468
SNPdbers397518468
MSV3drs397518468
GWAS Ctlgrs397518468
Max Magnitude0
ClinVar
Risk rs397518468(T;T)
Alt rs397518468(T;T)
Reference rs397518468(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.9934563G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074389.27,