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rs397518469

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397518469(A;G)
Make rs397518469(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position9849963
GeneGRIN2A
is asnp
is mentioned by
dbSNPrs397518469
ebirs397518469
HLIrs397518469
Exacrs397518469
Varsomers397518469
Maprs397518469
PheGenIrs397518469
hapmaprs397518469
1000 genomesrs397518469
hgdprs397518469
ensemblrs397518469
gopubmedrs397518469
geneviewrs397518469
scholarrs397518469
googlers397518469
pharmgkbrs397518469
gwascentralrs397518469
openSNPrs397518469
23andMers397518469
23andMe allrs397518469
SNP Nexus

SNPshotrs397518469
SNPdbers397518469
MSV3drs397518469
GWAS Ctlgrs397518469
Max Magnitude0
ClinVar
Risk rs397518469(G;G)
Alt rs397518469(G;G)
Reference rs397518469(A;A)
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.9943820T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000074390.27,