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rs118192218

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192218(C;G)
Make rs118192218(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63433870
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192218
ebirs118192218
HLIrs118192218
Exacrs118192218
Varsomers118192218
Maprs118192218
PheGenIrs118192218
hapmaprs118192218
1000 genomesrs118192218
hgdprs118192218
ensemblrs118192218
gopubmedrs118192218
geneviewrs118192218
scholarrs118192218
googlers118192218
pharmgkbrs118192218
gwascentralrs118192218
openSNPrs118192218
23andMers118192218
23andMe allrs118192218
SNP Nexus

SNPshotrs118192218
SNPdbers118192218
MSV3drs118192218
GWAS Ctlgrs118192218
Max Magnitude0
ClinVar
Risk rs118192218(G;G)
Alt rs118192218(G;G)
Reference rs118192218(C;C)
Significance Pathogenic
Disease not provided Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN not provided Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62065223G>A; NC_000020.10:g.62065223G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000187895.1, RCV000020964.1,


OMIM121200
Desc
Variant
Relatedalso