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rs118192199

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192199(C;T)
Make rs118192199(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63444762
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192199
ebirs118192199
HLIrs118192199
Exacrs118192199
Varsomers118192199
Maprs118192199
PheGenIrs118192199
hapmaprs118192199
1000 genomesrs118192199
hgdprs118192199
ensemblrs118192199
gopubmedrs118192199
geneviewrs118192199
scholarrs118192199
googlers118192199
pharmgkbrs118192199
gwascentralrs118192199
openSNPrs118192199
23andMers118192199
23andMe allrs118192199
SNP Nexus

SNPshotrs118192199
SNPdbers118192199
MSV3drs118192199
GWAS Ctlgrs118192199
Max Magnitude0
ClinVar
Risk rs118192199(T;T)
Alt rs118192199(T;T)
Reference rs118192199(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.62076115G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000021000.1,


OMIM121200
Desc
Variant
Relatedalso