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rs118192252

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118192252(A;G)
Make rs118192252(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position132141191
GeneKCNQ3
is asnp
is mentioned by
dbSNPrs118192252
ebirs118192252
HLIrs118192252
Exacrs118192252
Varsomers118192252
Maprs118192252
PheGenIrs118192252
hapmaprs118192252
1000 genomesrs118192252
hgdprs118192252
ensemblrs118192252
gopubmedrs118192252
geneviewrs118192252
scholarrs118192252
googlers118192252
pharmgkbrs118192252
gwascentralrs118192252
openSNPrs118192252
23andMers118192252
23andMe allrs118192252
SNP Nexus

SNPshotrs118192252
SNPdbers118192252
MSV3drs118192252
GWAS Ctlgrs118192252
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs118192252(G;G)
Alt rs118192252(G;G)
Reference rs118192252(A;A)
Significance Pathogenic
Disease Benign familial neonatal seizures 2 not provided not specified
Variation info
Gene KCNQ3
CLNDBN Benign familial neonatal seizures 2 not provided not specified
Reversed 1
HGVS NC_000008.10:g.133153438T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020596.1, RCV000173804.1, RCV000188009.1,