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rs118192242

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192242(-;-)
Make rs118192242(-;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63407307
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192242
ebirs118192242
HLIrs118192242
Exacrs118192242
Varsomers118192242
Maprs118192242
PheGenIrs118192242
hapmaprs118192242
1000 genomesrs118192242
hgdprs118192242
ensemblrs118192242
gopubmedrs118192242
geneviewrs118192242
scholarrs118192242
googlers118192242
pharmgkbrs118192242
gwascentralrs118192242
openSNPrs118192242
23andMers118192242
23andMe allrs118192242
SNP Nexus

SNPshotrs118192242
SNPdbers118192242
MSV3drs118192242
GWAS Ctlgrs118192242
Max Magnitude0
ClinVar
Risk rs118192242(;)
Alt rs118192242(;)
Reference rs118192242(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.62038660delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020981.1,


OMIM121200
Desc
Variant
Relatedalso