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rs1057516111

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516111(A;G)
Make rs1057516111(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63433842
GeneKCNQ2, LOC105372721
is asnp
is mentioned by
dbSNPrs1057516111
dbSNP (old)rs1057516111
ClinGenrs1057516111
ebirs1057516111
HLIrs1057516111
Exacrs1057516111
Gnomadrs1057516111
Varsomers1057516111
Maprs1057516111
PheGenIrs1057516111
Biobankrs1057516111
1000 genomesrs1057516111
hgdprs1057516111
ensemblrs1057516111
gopubmedrs1057516111
geneviewrs1057516111
scholarrs1057516111
googlers1057516111
pharmgkbrs1057516111
gwascentralrs1057516111
openSNPrs1057516111
23andMers1057516111
23andMe allrs1057516111
SNPshotrs1057516111
SNPdbers1057516111
MSV3drs1057516111
GWAS Ctlgrs1057516111
Max Magnitude0
ClinVar
Risk rs1057516111(G;G)
Alt rs1057516111(G;G)
Reference Rs1057516111(A;A)
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.62065195T>C
CLNSRC
CLNACC RCV000408739.1,