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rs672601378

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs672601378(A;A)
Make rs672601378(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position13615149
GeneGRIN2B, LOC105369668
is asnp
is mentioned by
dbSNPrs672601378
ebirs672601378
HLIrs672601378
Exacrs672601378
Varsomers672601378
Maprs672601378
PheGenIrs672601378
hapmaprs672601378
1000 genomesrs672601378
hgdprs672601378
ensemblrs672601378
gopubmedrs672601378
geneviewrs672601378
scholarrs672601378
googlers672601378
pharmgkbrs672601378
gwascentralrs672601378
openSNPrs672601378
23andMers672601378
23andMe allrs672601378
SNP Nexus

SNPshotrs672601378
SNPdbers672601378
MSV3drs672601378
GWAS Ctlgrs672601378
Max Magnitude0
ClinVar
Risk rs672601378(A;A)
Alt rs672601378(A;A)
Reference rs672601378(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GRIN2B
CLNDBN Epileptic encephalopathy, early infantile, 27
Reversed 1
HGVS NC_000012.11:g.13768083C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000149505.2,