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rs672601377

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs672601377(A;T)
Make rs672601377(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position13608769
GeneGRIN2B, LOC105369668
is asnp
is mentioned by
dbSNPrs672601377
ebirs672601377
HLIrs672601377
Exacrs672601377
Varsomers672601377
Maprs672601377
PheGenIrs672601377
hapmaprs672601377
1000 genomesrs672601377
hgdprs672601377
ensemblrs672601377
gopubmedrs672601377
geneviewrs672601377
scholarrs672601377
googlers672601377
pharmgkbrs672601377
gwascentralrs672601377
openSNPrs672601377
23andMers672601377
23andMe allrs672601377
SNP Nexus

SNPshotrs672601377
SNPdbers672601377
MSV3drs672601377
GWAS Ctlgrs672601377
Max Magnitude0
ClinVar
Risk rs672601377(T;T)
Alt rs672601377(T;T)
Reference rs672601377(A;A)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GRIN2B
CLNDBN Epileptic encephalopathy, early infantile, 27
Reversed 1
HGVS NC_000012.11:g.13761703T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149504.2,