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rs1057516106

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516106(C;G)
Make rs1057516106(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63433876
GeneKCNQ2, LOC105372721
is asnp
is mentioned by
dbSNPrs1057516106
dbSNP (old)rs1057516106
ClinGenrs1057516106
ebirs1057516106
HLIrs1057516106
Exacrs1057516106
Gnomadrs1057516106
Varsomers1057516106
LitVarrs1057516106
Maprs1057516106
PheGenIrs1057516106
Biobankrs1057516106
1000 genomesrs1057516106
hgdprs1057516106
ensemblrs1057516106
gopubmedrs1057516106
geneviewrs1057516106
scholarrs1057516106
googlers1057516106
pharmgkbrs1057516106
gwascentralrs1057516106
openSNPrs1057516106
23andMers1057516106
23andMe allrs1057516106
SNPshotrs1057516106
SNPdbers1057516106
MSV3drs1057516106
GWAS Ctlgrs1057516106
Max Magnitude0
ClinVar
Risk rs1057516106(G;G) rs1057516106(T;T)
Alt rs1057516106(G;G) rs1057516106(T;T)
Reference Rs1057516106(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.62065229G>A; NC_000020.10:g.62065229G>C
CLNSRC
CLNACC RCV000408741.1, RCV000408696.1,