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rs1057516089

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516089(A;G)
Make rs1057516089(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63444700
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516089
dbSNP (old)rs1057516089
ClinGenrs1057516089
ebirs1057516089
HLIrs1057516089
Exacrs1057516089
Gnomadrs1057516089
Varsomers1057516089
Maprs1057516089
PheGenIrs1057516089
Biobankrs1057516089
1000 genomesrs1057516089
hgdprs1057516089
ensemblrs1057516089
gopubmedrs1057516089
geneviewrs1057516089
scholarrs1057516089
googlers1057516089
pharmgkbrs1057516089
gwascentralrs1057516089
openSNPrs1057516089
23andMers1057516089
23andMe allrs1057516089
SNPshotrs1057516089
SNPdbers1057516089
MSV3drs1057516089
GWAS Ctlgrs1057516089
Max Magnitude0
ClinVar
Risk rs1057516089(G;G)
Alt rs1057516089(G;G)
Reference Rs1057516089(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.62076053T>C
CLNSRC
CLNACC RCV000408717.1,