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rs397518470

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397518470(A;A)
Make rs397518470(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position9840745
GeneGRIN2A
is asnp
is mentioned by
dbSNPrs397518470
ebirs397518470
HLIrs397518470
Exacrs397518470
Varsomers397518470
Maprs397518470
PheGenIrs397518470
hapmaprs397518470
1000 genomesrs397518470
hgdprs397518470
ensemblrs397518470
gopubmedrs397518470
geneviewrs397518470
scholarrs397518470
googlers397518470
pharmgkbrs397518470
gwascentralrs397518470
openSNPrs397518470
23andMers397518470
23andMe allrs397518470
SNP Nexus

SNPshotrs397518470
SNPdbers397518470
MSV3drs397518470
GWAS Ctlgrs397518470
Max Magnitude0
ClinVar
Risk rs397518470(A;A)
Alt rs397518470(A;A)
Reference rs397518470(G;G)
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.9934602C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074391.27,