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rs397518471

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397518471(G;G)
Make rs397518471(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position9829476
GeneGRIN2A
is asnp
is mentioned by
dbSNPrs397518471
ebirs397518471
HLIrs397518471
Exacrs397518471
Varsomers397518471
Maprs397518471
PheGenIrs397518471
hapmaprs397518471
1000 genomesrs397518471
hgdprs397518471
ensemblrs397518471
gopubmedrs397518471
geneviewrs397518471
scholarrs397518471
googlers397518471
pharmgkbrs397518471
gwascentralrs397518471
openSNPrs397518471
23andMers397518471
23andMe allrs397518471
SNP Nexus

SNPshotrs397518471
SNPdbers397518471
MSV3drs397518471
GWAS Ctlgrs397518471
Max Magnitude0
ClinVar
Risk rs397518471(G;G)
Alt rs397518471(G;G)
Reference rs397518471(T;T)
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.9923333A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000074392.26,