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rs876657390

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs876657390(G;T)
Make rs876657390(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position110603889
GeneKCNA2
is asnp
is mentioned by
dbSNPrs876657390
dbSNP (classic)rs876657390
ClinGenrs876657390
ebirs876657390
HLIrs876657390
Exacrs876657390
Gnomadrs876657390
Varsomers876657390
LitVarrs876657390
Maprs876657390
PheGenIrs876657390
Biobankrs876657390
1000 genomesrs876657390
hgdprs876657390
ensemblrs876657390
geneviewrs876657390
scholarrs876657390
googlers876657390
pharmgkbrs876657390
gwascentralrs876657390
openSNPrs876657390
23andMers876657390
SNPshotrs876657390
SNPdbers876657390
MSV3drs876657390
GWAS Ctlgrs876657390
Max Magnitude0
ClinVar
Risk rs876657390(T;T)
Alt rs876657390(T;T)
Reference Rs876657390(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene KCNA2
CLNDBN Epileptic encephalopathy, early infantile, 32
Reversed 1
HGVS NC_000001.10:g.111146511C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000170513.3,