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rs397514557

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514557(C;G)
Make rs397514557(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position9829485
GeneGRIN2A
is asnp
is mentioned by
dbSNPrs397514557
ebirs397514557
HLIrs397514557
Exacrs397514557
Varsomers397514557
Maprs397514557
PheGenIrs397514557
hapmaprs397514557
1000 genomesrs397514557
hgdprs397514557
ensemblrs397514557
gopubmedrs397514557
geneviewrs397514557
scholarrs397514557
googlers397514557
pharmgkbrs397514557
gwascentralrs397514557
openSNPrs397514557
23andMers397514557
23andMe allrs397514557
SNP Nexus

SNPshotrs397514557
SNPdbers397514557
MSV3drs397514557
GWAS Ctlgrs397514557
Max Magnitude0
ClinVar
Risk rs397514557(G;G)
Alt rs397514557(G;G)
Reference rs397514557(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.9923342G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032866.28,