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rs1057516124

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516124(C;T)
Make rs1057516124(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63408517
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516124
dbSNP (old)rs1057516124
ClinGenrs1057516124
ebirs1057516124
HLIrs1057516124
Exacrs1057516124
Gnomadrs1057516124
Varsomers1057516124
Maprs1057516124
PheGenIrs1057516124
Biobankrs1057516124
1000 genomesrs1057516124
hgdprs1057516124
ensemblrs1057516124
gopubmedrs1057516124
geneviewrs1057516124
scholarrs1057516124
googlers1057516124
pharmgkbrs1057516124
gwascentralrs1057516124
openSNPrs1057516124
23andMers1057516124
23andMe allrs1057516124
SNPshotrs1057516124
SNPdbers1057516124
MSV3drs1057516124
GWAS Ctlgrs1057516124
Max Magnitude0
ClinVar
Risk rs1057516124(T;T)
Alt rs1057516124(T;T)
Reference Rs1057516124(C;C)
Significance Pathogenic
Disease Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62039870G>A
CLNSRC
CLNACC RCV000408668.1,