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rs118192188

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs118192188(-;C)
Make rs118192188(C;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position63472259
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192188
dbSNP (classic)rs118192188
ClinGenrs118192188
ebirs118192188
HLIrs118192188
Exacrs118192188
Gnomadrs118192188
Varsomers118192188
LitVarrs118192188
Maprs118192188
PheGenIrs118192188
Biobankrs118192188
1000 genomesrs118192188
hgdprs118192188
ensemblrs118192188
geneviewrs118192188
scholarrs118192188
googlers118192188
pharmgkbrs118192188
gwascentralrs118192188
openSNPrs118192188
23andMers118192188
SNPshotrs118192188
SNPdbers118192188
MSV3drs118192188
GWAS Ctlgrs118192188
Max Magnitude0
ClinVar
Risk rs118192188(C;C)
Alt rs118192188(C;C)
Reference Rs118192188(-;-)
Significance Pathogenic
Disease Benign familial neonatal seizures 1 not provided
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1 not provided
Reversed 1
HGVS NC_000020.10:g.62103613dupG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020984.1, RCV000187949.1,