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rs118192211

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192211(C;G)
Make rs118192211(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63439644
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192211
ebirs118192211
HLIrs118192211
Exacrs118192211
Varsomers118192211
Maprs118192211
PheGenIrs118192211
hapmaprs118192211
1000 genomesrs118192211
hgdprs118192211
ensemblrs118192211
gopubmedrs118192211
geneviewrs118192211
scholarrs118192211
googlers118192211
pharmgkbrs118192211
gwascentralrs118192211
openSNPrs118192211
23andMers118192211
23andMe allrs118192211
SNP Nexus

SNPshotrs118192211
SNPdbers118192211
MSV3drs118192211
GWAS Ctlgrs118192211
Max Magnitude0
ClinVar
Risk rs118192211(G;G)
Alt rs118192211(G;G)
Reference rs118192211(C;C)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy 7 Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN not provided Early infantile epileptic encephalopathy 7 Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62070997G>A; NC_000020.10:g.62070997G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000187883.2, RCV000203604.1, RCV000021015.1,


OMIM121200
Desc
Variant
Relatedalso