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rs118192244

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192244(-;-)
Make rs118192244(-;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63407136
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192244
ebirs118192244
HLIrs118192244
Exacrs118192244
Varsomers118192244
Maprs118192244
PheGenIrs118192244
hapmaprs118192244
1000 genomesrs118192244
hgdprs118192244
ensemblrs118192244
gopubmedrs118192244
geneviewrs118192244
scholarrs118192244
googlers118192244
pharmgkbrs118192244
gwascentralrs118192244
openSNPrs118192244
23andMers118192244
23andMe allrs118192244
SNP Nexus

SNPshotrs118192244
SNPdbers118192244
MSV3drs118192244
GWAS Ctlgrs118192244
Max Magnitude0
OMIM602235
Desc
Variant0010
Relatedalso
ClinVar
Risk rs118192244(;)
Alt rs118192244(;)
Reference rs118192244(T;T)
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.62038489delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000007814.3, RCV000187948.1,