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rs1057516084

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(CGG;CGG) 0 common in clinvar
Make rs1057516084(A;A)
Make rs1057516084(A;CGG)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63444755
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516084
dbSNP (old)rs1057516084
ClinGenrs1057516084
ebirs1057516084
HLIrs1057516084
Exacrs1057516084
Gnomadrs1057516084
Varsomers1057516084
Maprs1057516084
PheGenIrs1057516084
Biobankrs1057516084
1000 genomesrs1057516084
hgdprs1057516084
ensemblrs1057516084
gopubmedrs1057516084
geneviewrs1057516084
scholarrs1057516084
googlers1057516084
pharmgkbrs1057516084
gwascentralrs1057516084
openSNPrs1057516084
23andMers1057516084
23andMe allrs1057516084
SNPshotrs1057516084
SNPdbers1057516084
MSV3drs1057516084
GWAS Ctlgrs1057516084
Max Magnitude0
ClinVar
Risk rs1057516084(A;A)
Alt rs1057516084(A;A)
Reference Rs1057516084(CGG;CGG)
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.62076108_62076110delCCGinsT
CLNSRC
CLNACC RCV000408738.1,