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rs397518466

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397518466(C;C)
Make rs397518466(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position10180410
GeneGRIN2A
is asnp
is mentioned by
dbSNPrs397518466
ebirs397518466
HLIrs397518466
Exacrs397518466
Varsomers397518466
Maprs397518466
PheGenIrs397518466
hapmaprs397518466
1000 genomesrs397518466
hgdprs397518466
ensemblrs397518466
gopubmedrs397518466
geneviewrs397518466
scholarrs397518466
googlers397518466
pharmgkbrs397518466
gwascentralrs397518466
openSNPrs397518466
23andMers397518466
23andMe allrs397518466
SNP Nexus

SNPshotrs397518466
SNPdbers397518466
MSV3drs397518466
GWAS Ctlgrs397518466
Max Magnitude0
ClinVar
Risk rs397518466(C;C)
Alt rs397518466(C;C)
Reference rs397518466(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.10274267A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000074387.26,