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rs118192238

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118192238(A;G)
Make rs118192238(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63408538
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192238
ebirs118192238
HLIrs118192238
Exacrs118192238
Varsomers118192238
Maprs118192238
PheGenIrs118192238
hapmaprs118192238
1000 genomesrs118192238
hgdprs118192238
ensemblrs118192238
gopubmedrs118192238
geneviewrs118192238
scholarrs118192238
googlers118192238
pharmgkbrs118192238
gwascentralrs118192238
openSNPrs118192238
23andMers118192238
23andMe allrs118192238
SNP Nexus

SNPshotrs118192238
SNPdbers118192238
MSV3drs118192238
GWAS Ctlgrs118192238
Max Magnitude0
ClinVar
Risk rs118192238(G;G)
Alt rs118192238(G;G)
Reference rs118192238(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.62039891T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000021024.1,