Have questions? Visit https://www.reddit.com/r/SNPedia

rs397518472

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518472(C;T)
Make rs397518472(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position9822391
GeneGRIN2A
is asnp
is mentioned by
dbSNPrs397518472
ebirs397518472
HLIrs397518472
Exacrs397518472
Varsomers397518472
Maprs397518472
PheGenIrs397518472
hapmaprs397518472
1000 genomesrs397518472
hgdprs397518472
ensemblrs397518472
gopubmedrs397518472
geneviewrs397518472
scholarrs397518472
googlers397518472
pharmgkbrs397518472
gwascentralrs397518472
openSNPrs397518472
23andMers397518472
23andMe allrs397518472
SNP Nexus

SNPshotrs397518472
SNPdbers397518472
MSV3drs397518472
GWAS Ctlgrs397518472
Max Magnitude0
ClinVar
Risk rs397518472(T;T)
Alt rs397518472(T;T)
Reference rs397518472(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.9916248G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074393.26,