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rs118192228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192228(A;A)
Make rs118192228(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63414902
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192228
ebirs118192228
HLIrs118192228
Exacrs118192228
Varsomers118192228
Maprs118192228
PheGenIrs118192228
hapmaprs118192228
1000 genomesrs118192228
hgdprs118192228
ensemblrs118192228
gopubmedrs118192228
geneviewrs118192228
scholarrs118192228
googlers118192228
pharmgkbrs118192228
gwascentralrs118192228
openSNPrs118192228
23andMers118192228
23andMe allrs118192228
SNP Nexus

SNPshotrs118192228
SNPdbers118192228
MSV3drs118192228
GWAS Ctlgrs118192228
Max Magnitude0
ClinVar
Risk rs118192228(A;A)
Alt rs118192228(A;A)
Reference rs118192228(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.62046255C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020971.1,


OMIM121200
Desc
Variant
Relatedalso