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rs118192213

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs118192213(-;-)
Make rs118192213(-;G)
Make rs118192213(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63438708
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192213
ebirs118192213
HLIrs118192213
Exacrs118192213
Varsomers118192213
Maprs118192213
PheGenIrs118192213
hapmaprs118192213
1000 genomesrs118192213
hgdprs118192213
ensemblrs118192213
gopubmedrs118192213
geneviewrs118192213
scholarrs118192213
googlers118192213
pharmgkbrs118192213
gwascentralrs118192213
openSNPrs118192213
23andMers118192213
23andMe allrs118192213
SNP Nexus

SNPshotrs118192213
SNPdbers118192213
MSV3drs118192213
GWAS Ctlgrs118192213
Max Magnitude0
ClinVar
Risk rs118192213(G;G)
Alt rs118192213(G;G)
Reference rs118192213(;)
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.62070062dupC
CLNSRC ClinVar GeneReviews
CLNACC RCV000021017.1,