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rs118192246

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs118192246(-;-)
Make rs118192246(-;GGGCC)
Make rs118192246(GGGCC;GGGCC)
ReferenceGRCh38 38.1/141
Chromosome20
Position63406658
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192246
ebirs118192246
HLIrs118192246
Exacrs118192246
Varsomers118192246
Maprs118192246
PheGenIrs118192246
hapmaprs118192246
1000 genomesrs118192246
hgdprs118192246
ensemblrs118192246
gopubmedrs118192246
geneviewrs118192246
scholarrs118192246
googlers118192246
pharmgkbrs118192246
gwascentralrs118192246
openSNPrs118192246
23andMers118192246
23andMe allrs118192246
SNP Nexus

SNPshotrs118192246
SNPdbers118192246
MSV3drs118192246
GWAS Ctlgrs118192246
Max Magnitude0
ClinVar
Risk rs118192246(GGGCC;GGGCC)
Alt rs118192246(GGGCC;GGGCC)
Reference rs118192246(;)
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.62038007_62038011dupGGCCC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020990.1,


OMIM121200
Desc
Variant
Relatedalso