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

rs118192254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118192254(A;G)
Make rs118192254(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position132129419
GeneKCNQ3
is asnp
is mentioned by
dbSNPrs118192254
ebirs118192254
HLIrs118192254
Exacrs118192254
Varsomers118192254
Maprs118192254
PheGenIrs118192254
hapmaprs118192254
1000 genomesrs118192254
hgdprs118192254
ensemblrs118192254
gopubmedrs118192254
geneviewrs118192254
scholarrs118192254
googlers118192254
pharmgkbrs118192254
gwascentralrs118192254
openSNPrs118192254
23andMers118192254
23andMe allrs118192254
SNP Nexus

SNPshotrs118192254
SNPdbers118192254
MSV3drs118192254
GWAS Ctlgrs118192254
Max Magnitude0
ClinVar
Risk rs118192254(G;G)
Alt rs118192254(G;G)
Reference rs118192254(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.133141666T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020598.1, RCV000174898.1, RCV000187958.1,