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rs118192251

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192251(C;T)
Make rs118192251(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position132174295
GeneKCNQ3
is asnp
is mentioned by
dbSNPrs118192251
ebirs118192251
HLIrs118192251
Exacrs118192251
Varsomers118192251
Maprs118192251
PheGenIrs118192251
hapmaprs118192251
1000 genomesrs118192251
hgdprs118192251
ensemblrs118192251
gopubmedrs118192251
geneviewrs118192251
scholarrs118192251
googlers118192251
pharmgkbrs118192251
gwascentralrs118192251
openSNPrs118192251
23andMers118192251
23andMe allrs118192251
SNP Nexus

SNPshotrs118192251
SNPdbers118192251
MSV3drs118192251
GWAS Ctlgrs118192251
Max Magnitude0
ClinVar
Risk rs118192251(T;T)
Alt rs118192251(T;T)
Reference rs118192251(C;C)
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.133186542G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020602.1,