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rs118192190

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192190(A;A)
Make rs118192190(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63472167
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192190
ebirs118192190
HLIrs118192190
Exacrs118192190
Varsomers118192190
Maprs118192190
PheGenIrs118192190
hapmaprs118192190
1000 genomesrs118192190
hgdprs118192190
ensemblrs118192190
gopubmedrs118192190
geneviewrs118192190
scholarrs118192190
googlers118192190
pharmgkbrs118192190
gwascentralrs118192190
openSNPrs118192190
23andMers118192190
23andMe allrs118192190
SNP Nexus

SNPshotrs118192190
SNPdbers118192190
MSV3drs118192190
GWAS Ctlgrs118192190
Max Magnitude0
ClinVar
Risk rs118192190(A;A)
Alt rs118192190(A;A)
Reference rs118192190(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.62103520C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000021021.1,