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rs118192214

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192214(C;T)
Make rs118192214(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63438681
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192214
ebirs118192214
HLIrs118192214
Exacrs118192214
Varsomers118192214
Maprs118192214
PheGenIrs118192214
hapmaprs118192214
1000 genomesrs118192214
hgdprs118192214
ensemblrs118192214
gopubmedrs118192214
geneviewrs118192214
scholarrs118192214
googlers118192214
pharmgkbrs118192214
gwascentralrs118192214
openSNPrs118192214
23andMers118192214
23andMe allrs118192214
SNP Nexus

SNPshotrs118192214
SNPdbers118192214
MSV3drs118192214
GWAS Ctlgrs118192214
Max Magnitude0
ClinVar
Risk rs118192214(T;T)
Alt rs118192214(T;T)
Reference rs118192214(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.62070034G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000021018.1,


OMIM121200
Desc
Variant
Relatedalso