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rs118192233

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192233(G;T)
Make rs118192233(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63413582
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192233
ebirs118192233
HLIrs118192233
Exacrs118192233
Varsomers118192233
Maprs118192233
PheGenIrs118192233
hapmaprs118192233
1000 genomesrs118192233
hgdprs118192233
ensemblrs118192233
gopubmedrs118192233
geneviewrs118192233
scholarrs118192233
googlers118192233
pharmgkbrs118192233
gwascentralrs118192233
openSNPrs118192233
23andMers118192233
23andMe allrs118192233
SNP Nexus

SNPshotrs118192233
SNPdbers118192233
MSV3drs118192233
GWAS Ctlgrs118192233
Max Magnitude0
ClinVar
Risk rs118192233(T;T)
Alt rs118192233(T;T)
Reference rs118192233(G;G)
Significance Pathogenic
Disease Benign familial neonatal seizures 1 not provided
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1 not provided
Reversed 1
HGVS NC_000020.10:g.62044935C>A; NC_000020.10:g.62044935C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020974.2, RCV000187908.1,