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rs118192216

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192216(A;A)
Make rs118192216(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63438650
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192216
ebirs118192216
HLIrs118192216
Exacrs118192216
Varsomers118192216
Maprs118192216
PheGenIrs118192216
hapmaprs118192216
1000 genomesrs118192216
hgdprs118192216
ensemblrs118192216
gopubmedrs118192216
geneviewrs118192216
scholarrs118192216
googlers118192216
pharmgkbrs118192216
gwascentralrs118192216
openSNPrs118192216
23andMers118192216
23andMe allrs118192216
SNP Nexus

SNPshotrs118192216
SNPdbers118192216
MSV3drs118192216
GWAS Ctlgrs118192216
Max Magnitude0
ClinVar
Risk rs118192216(A;A)
Alt rs118192216(A;A)
Reference rs118192216(G;G)
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.62070003C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000021020.1,


OMIM121200
Desc
Variant
Relatedalso