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rs118192220

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192220(A;A)
Make rs118192220(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63431370
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192220
ebirs118192220
HLIrs118192220
Exacrs118192220
Varsomers118192220
Maprs118192220
PheGenIrs118192220
hapmaprs118192220
1000 genomesrs118192220
hgdprs118192220
ensemblrs118192220
gopubmedrs118192220
geneviewrs118192220
scholarrs118192220
googlers118192220
pharmgkbrs118192220
gwascentralrs118192220
openSNPrs118192220
23andMers118192220
23andMe allrs118192220
SNP Nexus

SNPshotrs118192220
SNPdbers118192220
MSV3drs118192220
GWAS Ctlgrs118192220
Max Magnitude0
ClinVar
Risk rs118192220(A;A)
Alt rs118192220(A;A)
Reference rs118192220(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.62062723C>T
CLNSRC
CLNACC