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rs397518450

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518450(C;G)
Make rs397518450(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position9834227
GeneGRIN2A
is asnp
is mentioned by
dbSNPrs397518450
ebirs397518450
HLIrs397518450
Exacrs397518450
Varsomers397518450
Maprs397518450
PheGenIrs397518450
hapmaprs397518450
1000 genomesrs397518450
hgdprs397518450
ensemblrs397518450
gopubmedrs397518450
geneviewrs397518450
scholarrs397518450
googlers397518450
pharmgkbrs397518450
gwascentralrs397518450
openSNPrs397518450
23andMers397518450
23andMe allrs397518450
SNP Nexus

SNPshotrs397518450
SNPdbers397518450
MSV3drs397518450
GWAS Ctlgrs397518450
Max Magnitude0
ClinVar
Risk rs397518450(G;G)
Alt rs397518450(G;G)
Reference rs397518450(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.9928084G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032867.28,