Have questions? Visit https://www.reddit.com/r/SNPedia

rs118192248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118192248(A;G)
Make rs118192248(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position132175472
GeneKCNQ3
is asnp
is mentioned by
dbSNPrs118192248
ebirs118192248
HLIrs118192248
Exacrs118192248
Varsomers118192248
Maprs118192248
PheGenIrs118192248
hapmaprs118192248
1000 genomesrs118192248
hgdprs118192248
ensemblrs118192248
gopubmedrs118192248
geneviewrs118192248
scholarrs118192248
googlers118192248
pharmgkbrs118192248
gwascentralrs118192248
openSNPrs118192248
23andMers118192248
23andMe allrs118192248
SNP Nexus

SNPshotrs118192248
SNPdbers118192248
MSV3drs118192248
GWAS Ctlgrs118192248
Max Magnitude0
ClinVar
Risk rs118192248(G;G)
Alt rs118192248(G;G)
Reference rs118192248(A;A)
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.133187719T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020600.1,