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rs118192194

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192194(C;T)
Make rs118192194(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63446769
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192194
ebirs118192194
HLIrs118192194
Exacrs118192194
Varsomers118192194
Maprs118192194
PheGenIrs118192194
hapmaprs118192194
1000 genomesrs118192194
hgdprs118192194
ensemblrs118192194
gopubmedrs118192194
geneviewrs118192194
scholarrs118192194
googlers118192194
pharmgkbrs118192194
gwascentralrs118192194
openSNPrs118192194
23andMers118192194
23andMe allrs118192194
SNP Nexus

SNPshotrs118192194
SNPdbers118192194
MSV3drs118192194
GWAS Ctlgrs118192194
Max Magnitude0
ClinVar
Risk rs118192194(T;T)
Alt rs118192194(T;T)
Reference rs118192194(C;C)
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.62078122G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020995.1, RCV000187851.2,


OMIM121200
Desc
Variant
Relatedalso