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rs1057516113

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516113(-;-)
Make rs1057516113(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63431362
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs1057516113
dbSNP (old)rs1057516113
ClinGenrs1057516113
ebirs1057516113
HLIrs1057516113
Exacrs1057516113
Gnomadrs1057516113
Varsomers1057516113
Maprs1057516113
PheGenIrs1057516113
Biobankrs1057516113
1000 genomesrs1057516113
hgdprs1057516113
ensemblrs1057516113
gopubmedrs1057516113
geneviewrs1057516113
scholarrs1057516113
googlers1057516113
pharmgkbrs1057516113
gwascentralrs1057516113
openSNPrs1057516113
23andMers1057516113
23andMe allrs1057516113
SNPshotrs1057516113
SNPdbers1057516113
MSV3drs1057516113
GWAS Ctlgrs1057516113
Max Magnitude0
ClinVar
Risk rs1057516113(-;-)
Alt rs1057516113(-;-)
Reference Rs1057516113(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.62062715delT
CLNSRC
CLNACC RCV000408707.1,