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rs1057519536

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519536(A;A)
Make rs1057519536(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63442424
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057519536
dbSNP (old)rs1057519536
ClinGenrs1057519536
ebirs1057519536
HLIrs1057519536
Exacrs1057519536
Gnomadrs1057519536
Varsomers1057519536
Maprs1057519536
PheGenIrs1057519536
Biobankrs1057519536
1000 genomesrs1057519536
hgdprs1057519536
ensemblrs1057519536
gopubmedrs1057519536
geneviewrs1057519536
scholarrs1057519536
googlers1057519536
pharmgkbrs1057519536
gwascentralrs1057519536
openSNPrs1057519536
23andMers1057519536
23andMe allrs1057519536
SNPshotrs1057519536
SNPdbers1057519536
MSV3drs1057519536
GWAS Ctlgrs1057519536
Max Magnitude0
ClinVar
Risk rs1057519536(A;A)
Alt rs1057519536(A;A)
Reference Rs1057519536(T;T)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene KCNQ2
CLNDBN Epileptic encephalopathy
Reversed 1
HGVS NC_000020.10:g.62073777A>T
CLNSRC
CLNACC RCV000416952.1,