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rs118192240

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192240(G;G)
Make rs118192240(G;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63407353
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192240
ebirs118192240
HLIrs118192240
Exacrs118192240
Varsomers118192240
Maprs118192240
PheGenIrs118192240
hapmaprs118192240
1000 genomesrs118192240
hgdprs118192240
ensemblrs118192240
gopubmedrs118192240
geneviewrs118192240
scholarrs118192240
googlers118192240
pharmgkbrs118192240
gwascentralrs118192240
openSNPrs118192240
23andMers118192240
23andMe allrs118192240
SNP Nexus

SNPshotrs118192240
SNPdbers118192240
MSV3drs118192240
GWAS Ctlgrs118192240
Max Magnitude0
ClinVar
Risk rs118192240(G;G)
Alt rs118192240(G;G)
Reference rs118192240(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.62038706A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020979.1,


OMIM121200
Desc
Variant
Relatedalso