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rs876657389

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs876657389(C;T)
Make rs876657389(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position110603569
GeneKCNA2
is asnp
is mentioned by
dbSNPrs876657389
dbSNP (classic)rs876657389
ClinGenrs876657389
ebirs876657389
HLIrs876657389
Exacrs876657389
Gnomadrs876657389
Varsomers876657389
LitVarrs876657389
Maprs876657389
PheGenIrs876657389
Biobankrs876657389
1000 genomesrs876657389
hgdprs876657389
ensemblrs876657389
geneviewrs876657389
scholarrs876657389
googlers876657389
pharmgkbrs876657389
gwascentralrs876657389
openSNPrs876657389
23andMers876657389
SNPshotrs876657389
SNPdbers876657389
MSV3drs876657389
GWAS Ctlgrs876657389
Max Magnitude0
ClinVar
Risk rs876657389(T;T)
Alt rs876657389(T;T)
Reference Rs876657389(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy not provided
Variation info
Gene KCNA2
CLNDBN Epileptic encephalopathy, early infantile, 32 not provided
Reversed 1
HGVS NC_000001.10:g.111146191G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000170511.3, RCV000407449.1,