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

rs118192215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192215(C;T)
Make rs118192215(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63438651
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192215
ebirs118192215
HLIrs118192215
Exacrs118192215
Varsomers118192215
Maprs118192215
PheGenIrs118192215
hapmaprs118192215
1000 genomesrs118192215
hgdprs118192215
ensemblrs118192215
gopubmedrs118192215
geneviewrs118192215
scholarrs118192215
googlers118192215
pharmgkbrs118192215
gwascentralrs118192215
openSNPrs118192215
23andMers118192215
23andMe allrs118192215
SNP Nexus

SNPshotrs118192215
SNPdbers118192215
MSV3drs118192215
GWAS Ctlgrs118192215
Max Magnitude0
ClinVar
Risk rs118192215(T;T)
Alt rs118192215(T;T)
Reference rs118192215(C;C)
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.62070004G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000021019.1, RCV000187879.2,


OMIM121200
Desc
Variant
Relatedalso