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rs397518465

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397518465(A;A)
Make rs397518465(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position9937958
GeneGRIN2A
is asnp
is mentioned by
dbSNPrs397518465
dbSNP (classic)rs397518465
ClinGenrs397518465
ebirs397518465
HLIrs397518465
Exacrs397518465
Gnomadrs397518465
Varsomers397518465
LitVarrs397518465
Maprs397518465
PheGenIrs397518465
Biobankrs397518465
1000 genomesrs397518465
hgdprs397518465
ensemblrs397518465
geneviewrs397518465
scholarrs397518465
googlers397518465
pharmgkbrs397518465
gwascentralrs397518465
openSNPrs397518465
23andMers397518465
SNPshotrs397518465
SNPdbers397518465
MSV3drs397518465
GWAS Ctlgrs397518465
Max Magnitude0
ClinVar
Risk rs397518465(A;A)
Alt rs397518465(A;A)
Reference Rs397518465(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.10031815C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074386.28,