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rs118192241

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192241(-;-)
Make rs118192241(-;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63407333
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192241
ebirs118192241
HLIrs118192241
Exacrs118192241
Varsomers118192241
Maprs118192241
PheGenIrs118192241
hapmaprs118192241
1000 genomesrs118192241
hgdprs118192241
ensemblrs118192241
gopubmedrs118192241
geneviewrs118192241
scholarrs118192241
googlers118192241
pharmgkbrs118192241
gwascentralrs118192241
openSNPrs118192241
23andMers118192241
23andMe allrs118192241
SNP Nexus

SNPshotrs118192241
SNPdbers118192241
MSV3drs118192241
GWAS Ctlgrs118192241
Max Magnitude0
ClinVar
Risk rs118192241(;)
Alt rs118192241(;)
Reference rs118192241(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.62038686delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020980.1,


OMIM121200
Desc
Variant
Relatedalso