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rs118192202

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118192202(A;G)
Make rs118192202(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63444714
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192202
ebirs118192202
HLIrs118192202
Exacrs118192202
Varsomers118192202
Maprs118192202
PheGenIrs118192202
hapmaprs118192202
1000 genomesrs118192202
hgdprs118192202
ensemblrs118192202
gopubmedrs118192202
geneviewrs118192202
scholarrs118192202
googlers118192202
pharmgkbrs118192202
gwascentralrs118192202
openSNPrs118192202
23andMers118192202
23andMe allrs118192202
SNP Nexus

SNPshotrs118192202
SNPdbers118192202
MSV3drs118192202
GWAS Ctlgrs118192202
Max Magnitude0
ClinVar
Risk rs118192202(G;G)
Alt rs118192202(G;G)
Reference rs118192202(A;A)
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.62076067T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000021004.1,


OMIM121200
Desc
Variant
Relatedalso