Have questions? Visit https://www.reddit.com/r/SNPedia

rs118192234

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192234(A;A)
Make rs118192234(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63413555
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192234
ebirs118192234
HLIrs118192234
Exacrs118192234
Varsomers118192234
Maprs118192234
PheGenIrs118192234
hapmaprs118192234
1000 genomesrs118192234
hgdprs118192234
ensemblrs118192234
gopubmedrs118192234
geneviewrs118192234
scholarrs118192234
googlers118192234
pharmgkbrs118192234
gwascentralrs118192234
openSNPrs118192234
23andMers118192234
23andMe allrs118192234
SNP Nexus

SNPshotrs118192234
SNPdbers118192234
MSV3drs118192234
GWAS Ctlgrs118192234
Max Magnitude0
ClinVar
Risk rs118192234(A;A)
Alt rs118192234(A;A)
Reference rs118192234(G;G)
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.62044908C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020975.1, RCV000187913.1,


OMIM121200
Desc
Variant
Relatedalso