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rs672601376

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs672601376(G;G)
Make rs672601376(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position13608760
GeneGRIN2B, LOC105369668
is asnp
is mentioned by
dbSNPrs672601376
ebirs672601376
HLIrs672601376
Exacrs672601376
Varsomers672601376
Maprs672601376
PheGenIrs672601376
hapmaprs672601376
1000 genomesrs672601376
hgdprs672601376
ensemblrs672601376
gopubmedrs672601376
geneviewrs672601376
scholarrs672601376
googlers672601376
pharmgkbrs672601376
gwascentralrs672601376
openSNPrs672601376
23andMers672601376
23andMe allrs672601376
SNP Nexus

SNPshotrs672601376
SNPdbers672601376
MSV3drs672601376
GWAS Ctlgrs672601376
Max Magnitude0
ClinVar
Risk rs672601376(G;G)
Alt rs672601376(G;G)
Reference rs672601376(T;T)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GRIN2B
CLNDBN Epileptic encephalopathy, early infantile, 27
Reversed 1
HGVS NC_000012.11:g.13761694A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000149503.2,