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rs1057516077

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516077(C;T)
Make rs1057516077(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63446793
GeneKCNQ2, LOC105372720
is asnp
is mentioned by
dbSNPrs1057516077
dbSNP (classic)rs1057516077
ClinGenrs1057516077
ebirs1057516077
HLIrs1057516077
Exacrs1057516077
Gnomadrs1057516077
Varsomers1057516077
LitVarrs1057516077
Maprs1057516077
PheGenIrs1057516077
Biobankrs1057516077
1000 genomesrs1057516077
hgdprs1057516077
ensemblrs1057516077
geneviewrs1057516077
scholarrs1057516077
googlers1057516077
pharmgkbrs1057516077
gwascentralrs1057516077
openSNPrs1057516077
23andMers1057516077
23andMe allrs1057516077
SNPshotrs1057516077
SNPdbers1057516077
MSV3drs1057516077
GWAS Ctlgrs1057516077
Max Magnitude0
ClinVar
Risk rs1057516077(T;T)
Alt rs1057516077(T;T)
Reference Rs1057516077(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 7
Variation info
Gene KCNQ2
CLNDBN Early infantile epileptic encephalopathy 7
Reversed 1
HGVS NC_000020.10:g.62078146G>A
CLNSRC
CLNACC RCV000408706.1,