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rs1057516078

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516078(G;G)
Make rs1057516078(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63445292
GeneKCNQ2, LOC105372720
is asnp
is mentioned by
dbSNPrs1057516078
dbSNP (old)rs1057516078
ClinGenrs1057516078
ebirs1057516078
HLIrs1057516078
Exacrs1057516078
Gnomadrs1057516078
Varsomers1057516078
Maprs1057516078
PheGenIrs1057516078
Biobankrs1057516078
1000 genomesrs1057516078
hgdprs1057516078
ensemblrs1057516078
gopubmedrs1057516078
geneviewrs1057516078
scholarrs1057516078
googlers1057516078
pharmgkbrs1057516078
gwascentralrs1057516078
openSNPrs1057516078
23andMers1057516078
23andMe allrs1057516078
SNPshotrs1057516078
SNPdbers1057516078
MSV3drs1057516078
GWAS Ctlgrs1057516078
Max Magnitude0
ClinVar
Risk rs1057516078(G;G)
Alt rs1057516078(G;G)
Reference Rs1057516078(T;T)
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.62076645A>C
CLNSRC
CLNACC RCV000408679.1,