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rs397518447

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518447(A;A)
Make rs397518447(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position9829585
GeneGRIN2A
is asnp
is mentioned by
dbSNPrs397518447
ebirs397518447
HLIrs397518447
Exacrs397518447
Varsomers397518447
Maprs397518447
PheGenIrs397518447
hapmaprs397518447
1000 genomesrs397518447
hgdprs397518447
ensemblrs397518447
gopubmedrs397518447
geneviewrs397518447
scholarrs397518447
googlers397518447
pharmgkbrs397518447
gwascentralrs397518447
openSNPrs397518447
23andMers397518447
23andMe allrs397518447
SNP Nexus

SNPshotrs397518447
SNPdbers397518447
MSV3drs397518447
GWAS Ctlgrs397518447
Max Magnitude0
ClinVar
Risk rs397518447(A;A)
Alt rs397518447(A;A)
Reference rs397518447(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.9923442G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022585.24,