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rs118192186

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192186(C;C)
Make rs118192186(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position63472462
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192186
ebirs118192186
HLIrs118192186
Exacrs118192186
Varsomers118192186
Maprs118192186
PheGenIrs118192186
hapmaprs118192186
1000 genomesrs118192186
hgdprs118192186
ensemblrs118192186
gopubmedrs118192186
geneviewrs118192186
scholarrs118192186
googlers118192186
pharmgkbrs118192186
gwascentralrs118192186
openSNPrs118192186
23andMers118192186
23andMe allrs118192186
SNP Nexus

SNPshotrs118192186
SNPdbers118192186
MSV3drs118192186
GWAS Ctlgrs118192186
Max Magnitude0
ClinVar
Risk rs118192186(C;C)
Alt rs118192186(C;C)
Reference rs118192186(T;T)
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.62103815A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020991.1,


OMIM121200
Desc
Variant
Relatedalso