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rs118192197

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTGCGCTCCG;CTGCGCTCCG) 0 common in clinvar
Make rs118192197(A;A)
Make rs118192197(A;CTGCGCTCCG)
ReferenceGRCh38 38.1/141
Chromosome20
Position63444756
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192197
ebirs118192197
HLIrs118192197
Exacrs118192197
Varsomers118192197
Maprs118192197
PheGenIrs118192197
hapmaprs118192197
1000 genomesrs118192197
hgdprs118192197
ensemblrs118192197
gopubmedrs118192197
geneviewrs118192197
scholarrs118192197
googlers118192197
pharmgkbrs118192197
gwascentralrs118192197
openSNPrs118192197
23andMers118192197
23andMe allrs118192197
SNP Nexus

SNPshotrs118192197
SNPdbers118192197
MSV3drs118192197
GWAS Ctlgrs118192197
Max Magnitude0
ClinVar
Risk rs118192197(A;A)
Alt rs118192197(A;A)
Reference rs118192197(CTGCGCTCCG;CTGCGCTCCG)
Significance Pathogenic
Disease Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62076109_62076118delCGGAGCGCAGinsT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020998.1,