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rs118192239

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192239(A;A)
Make rs118192239(A;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position63408542
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192239
ebirs118192239
HLIrs118192239
Exacrs118192239
Varsomers118192239
Maprs118192239
PheGenIrs118192239
hapmaprs118192239
1000 genomesrs118192239
hgdprs118192239
ensemblrs118192239
gopubmedrs118192239
geneviewrs118192239
scholarrs118192239
googlers118192239
pharmgkbrs118192239
gwascentralrs118192239
openSNPrs118192239
23andMers118192239
23andMe allrs118192239
SNP Nexus

SNPshotrs118192239
SNPdbers118192239
MSV3drs118192239
GWAS Ctlgrs118192239
Max Magnitude0
ClinVar
Risk rs118192239(A,T;A,T)
Alt rs118192239(A,T;A,T)
Reference rs118192239(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN Early infantile epileptic encephalopathy Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62039895G>A; NC_000020.10:g.62039895G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000198558.1, RCV000021025.1,