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rs118192249

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192249(C;C)
Make rs118192249(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position132175461
GeneKCNQ3
is asnp
is mentioned by
dbSNPrs118192249
ebirs118192249
HLIrs118192249
Exacrs118192249
Varsomers118192249
Maprs118192249
PheGenIrs118192249
hapmaprs118192249
1000 genomesrs118192249
hgdprs118192249
ensemblrs118192249
gopubmedrs118192249
geneviewrs118192249
scholarrs118192249
googlers118192249
pharmgkbrs118192249
gwascentralrs118192249
openSNPrs118192249
23andMers118192249
23andMe allrs118192249
SNP Nexus

SNPshotrs118192249
SNPdbers118192249
MSV3drs118192249
GWAS Ctlgrs118192249
Max Magnitude0
ClinVar
Risk rs118192249(C;C)
Alt rs118192249(C;C)
Reference rs118192249(T;T)
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.133187708A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020601.1,