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rs118192198

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs118192198(-;T)
Make rs118192198(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63444763
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192198
dbSNP (classic)rs118192198
ClinGenrs118192198
ebirs118192198
HLIrs118192198
Exacrs118192198
Gnomadrs118192198
Varsomers118192198
LitVarrs118192198
Maprs118192198
PheGenIrs118192198
Biobankrs118192198
1000 genomesrs118192198
hgdprs118192198
ensemblrs118192198
geneviewrs118192198
scholarrs118192198
googlers118192198
pharmgkbrs118192198
gwascentralrs118192198
openSNPrs118192198
23andMers118192198
SNPshotrs118192198
SNPdbers118192198
MSV3drs118192198
GWAS Ctlgrs118192198
Max Magnitude0
ClinVar
Risk rs118192198(T;T)
Alt rs118192198(T;T)
Reference Rs118192198(-;-)
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.62076117dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020999.2,