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rs118192247

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192247(A;A)
Make rs118192247(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position132175491
GeneKCNQ3
is asnp
is mentioned by
dbSNPrs118192247
ebirs118192247
HLIrs118192247
Exacrs118192247
Varsomers118192247
Maprs118192247
PheGenIrs118192247
hapmaprs118192247
1000 genomesrs118192247
hgdprs118192247
ensemblrs118192247
gopubmedrs118192247
geneviewrs118192247
scholarrs118192247
googlers118192247
pharmgkbrs118192247
gwascentralrs118192247
openSNPrs118192247
23andMers118192247
23andMe allrs118192247
SNP Nexus

SNPshotrs118192247
SNPdbers118192247
MSV3drs118192247
GWAS Ctlgrs118192247
Max Magnitude0
ClinVar
Risk rs118192247(A;A)
Alt rs118192247(A;A)
Reference rs118192247(G;G)
Significance Pathogenic
Disease Benign familial neonatal seizures 2
Variation info
Gene KCNQ3
CLNDBN Benign familial neonatal seizures 2
Reversed 1
HGVS NC_000008.10:g.133187738C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020599.1,