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rs118192223

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192223(G;G)
Make rs118192223(G;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63428365
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192223
ebirs118192223
HLIrs118192223
Exacrs118192223
Varsomers118192223
Maprs118192223
PheGenIrs118192223
hapmaprs118192223
1000 genomesrs118192223
hgdprs118192223
ensemblrs118192223
gopubmedrs118192223
geneviewrs118192223
scholarrs118192223
googlers118192223
pharmgkbrs118192223
gwascentralrs118192223
openSNPrs118192223
23andMers118192223
23andMe allrs118192223
SNP Nexus

SNPshotrs118192223
SNPdbers118192223
MSV3drs118192223
GWAS Ctlgrs118192223
Max Magnitude0
ClinVar
Risk rs118192223(G;G)
Alt rs118192223(G;G)
Reference rs118192223(T;T)
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.62059718A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020968.1,


OMIM121200
Desc
Variant
Relatedalso