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rs118192195

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192195(G;T)
Make rs118192195(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63446746
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192195
ebirs118192195
HLIrs118192195
Exacrs118192195
Varsomers118192195
Maprs118192195
PheGenIrs118192195
hapmaprs118192195
1000 genomesrs118192195
hgdprs118192195
ensemblrs118192195
gopubmedrs118192195
geneviewrs118192195
scholarrs118192195
googlers118192195
pharmgkbrs118192195
gwascentralrs118192195
openSNPrs118192195
23andMers118192195
23andMe allrs118192195
SNP Nexus

SNPshotrs118192195
SNPdbers118192195
MSV3drs118192195
GWAS Ctlgrs118192195
Max Magnitude0
ClinVar
Risk rs118192195(T;T)
Alt rs118192195(T;T)
Reference rs118192195(G;G)
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.62078099C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020996.1,


OMIM121200
Desc
Variant
Relatedalso