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rs118192203

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192203(C;T)
Make rs118192203(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63444712
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192203
ebirs118192203
HLIrs118192203
Exacrs118192203
Varsomers118192203
Maprs118192203
PheGenIrs118192203
hapmaprs118192203
1000 genomesrs118192203
hgdprs118192203
ensemblrs118192203
gopubmedrs118192203
geneviewrs118192203
scholarrs118192203
googlers118192203
pharmgkbrs118192203
gwascentralrs118192203
openSNPrs118192203
23andMers118192203
23andMe allrs118192203
SNP Nexus

SNPshotrs118192203
SNPdbers118192203
MSV3drs118192203
GWAS Ctlgrs118192203
Max Magnitude0
ClinVar
Risk rs118192203(T;T)
Alt rs118192203(T;T)
Reference rs118192203(C;C)
Significance Pathogenic
Disease Benign familial neonatal seizures 1 Early infantile epileptic encephalopathy 7 not provided Early infantile epileptic encephalopathy
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1 Early infantile epileptic encephalopathy 7 not provided Early infantile epileptic encephalopathy
Reversed 1
HGVS NC_000020.10:g.62076065G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000021005.2, RCV000178400.1, RCV000187866.1, RCV000234346.1,


OMIM121200
Desc
Variant
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