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

rs118192243

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192243(-;-)
Make rs118192243(-;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63407248
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192243
ebirs118192243
HLIrs118192243
Exacrs118192243
Varsomers118192243
Maprs118192243
PheGenIrs118192243
hapmaprs118192243
1000 genomesrs118192243
hgdprs118192243
ensemblrs118192243
gopubmedrs118192243
geneviewrs118192243
scholarrs118192243
googlers118192243
pharmgkbrs118192243
gwascentralrs118192243
openSNPrs118192243
23andMers118192243
23andMe allrs118192243
SNP Nexus

SNPshotrs118192243
SNPdbers118192243
MSV3drs118192243
GWAS Ctlgrs118192243
Max Magnitude0
ClinVar
Risk rs118192243(;)
Alt rs118192243(;)
Reference rs118192243(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.62038601delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020983.1,


OMIM121200
Desc
Variant
Relatedalso