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rs118192204

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192204(A;A)
Make rs118192204(A;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position63444665
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192204
ebirs118192204
HLIrs118192204
Exacrs118192204
Varsomers118192204
Maprs118192204
PheGenIrs118192204
hapmaprs118192204
1000 genomesrs118192204
hgdprs118192204
ensemblrs118192204
gopubmedrs118192204
geneviewrs118192204
scholarrs118192204
googlers118192204
pharmgkbrs118192204
gwascentralrs118192204
openSNPrs118192204
23andMers118192204
23andMe allrs118192204
SNP Nexus

SNPshotrs118192204
SNPdbers118192204
MSV3drs118192204
GWAS Ctlgrs118192204
Max Magnitude0
ClinVar
Risk rs118192204(A;A)
Alt rs118192204(A;A)
Reference rs118192204(C;C)
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.62076018G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000021007.1,


OMIM121200
Desc
Variant
Relatedalso