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rs118192217

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192217(G;G)
Make rs118192217(G;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63438632
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192217
ebirs118192217
HLIrs118192217
Exacrs118192217
Varsomers118192217
Maprs118192217
PheGenIrs118192217
hapmaprs118192217
1000 genomesrs118192217
hgdprs118192217
ensemblrs118192217
gopubmedrs118192217
geneviewrs118192217
scholarrs118192217
googlers118192217
pharmgkbrs118192217
gwascentralrs118192217
openSNPrs118192217
23andMers118192217
23andMe allrs118192217
SNP Nexus

SNPshotrs118192217
SNPdbers118192217
MSV3drs118192217
GWAS Ctlgrs118192217
Max Magnitude0
ClinVar
Risk rs118192217(G;G)
Alt rs118192217(G;G)
Reference rs118192217(T;T)
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.62069985A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020963.1,


OMIM121200
Desc
Variant
Relatedalso