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rs118192225

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192225(C;C)
Make rs118192225(C;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63415127
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192225
dbSNP (classic)rs118192225
ClinGenrs118192225
ebirs118192225
HLIrs118192225
Exacrs118192225
Gnomadrs118192225
Varsomers118192225
LitVarrs118192225
Maprs118192225
PheGenIrs118192225
Biobankrs118192225
1000 genomesrs118192225
hgdprs118192225
ensemblrs118192225
geneviewrs118192225
scholarrs118192225
googlers118192225
pharmgkbrs118192225
gwascentralrs118192225
openSNPrs118192225
23andMers118192225
SNPshotrs118192225
SNPdbers118192225
MSV3drs118192225
GWAS Ctlgrs118192225
Max Magnitude0
ClinVar
Risk rs118192225(C;C)
Alt rs118192225(C;C)
Reference Rs118192225(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.62046480C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000021022.2,