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rs118192224

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192224(C;T)
Make rs118192224(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63419632
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192224
ebirs118192224
HLIrs118192224
Exacrs118192224
Varsomers118192224
Maprs118192224
PheGenIrs118192224
hapmaprs118192224
1000 genomesrs118192224
hgdprs118192224
ensemblrs118192224
gopubmedrs118192224
geneviewrs118192224
scholarrs118192224
googlers118192224
pharmgkbrs118192224
gwascentralrs118192224
openSNPrs118192224
23andMers118192224
23andMe allrs118192224
SNP Nexus

SNPshotrs118192224
SNPdbers118192224
MSV3drs118192224
GWAS Ctlgrs118192224
Max Magnitude0
ClinVar
Risk rs118192224(T;T)
Alt rs118192224(T;T)
Reference rs118192224(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.62050985G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020969.1,


OMIM121200
Desc
Variant
Relatedalso