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rs1057516094

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516094(C;T)
Make rs1057516094(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63442420
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516094
dbSNP (old)rs1057516094
ClinGenrs1057516094
ebirs1057516094
HLIrs1057516094
Exacrs1057516094
Gnomadrs1057516094
Varsomers1057516094
Maprs1057516094
PheGenIrs1057516094
Biobankrs1057516094
1000 genomesrs1057516094
hgdprs1057516094
ensemblrs1057516094
gopubmedrs1057516094
geneviewrs1057516094
scholarrs1057516094
googlers1057516094
pharmgkbrs1057516094
gwascentralrs1057516094
openSNPrs1057516094
23andMers1057516094
23andMe allrs1057516094
SNPshotrs1057516094
SNPdbers1057516094
MSV3drs1057516094
GWAS Ctlgrs1057516094
Max Magnitude0
ClinVar
Risk rs1057516094(T;T)
Alt rs1057516094(T;T)
Reference Rs1057516094(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 7 Epileptic encephalopathy
Variation info
Gene KCNQ2
CLNDBN Early infantile epileptic encephalopathy 7 Epileptic encephalopathy
Reversed 1
HGVS NC_000020.10:g.62073773G>A
CLNSRC
CLNACC RCV000408694.1, RCV000416991.1,