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rs118192193

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118192193(A;G)
Make rs118192193(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63446778
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192193
ebirs118192193
HLIrs118192193
Exacrs118192193
Varsomers118192193
Maprs118192193
PheGenIrs118192193
hapmaprs118192193
1000 genomesrs118192193
hgdprs118192193
ensemblrs118192193
gopubmedrs118192193
geneviewrs118192193
scholarrs118192193
googlers118192193
pharmgkbrs118192193
gwascentralrs118192193
openSNPrs118192193
23andMers118192193
23andMe allrs118192193
SNP Nexus

SNPshotrs118192193
SNPdbers118192193
MSV3drs118192193
GWAS Ctlgrs118192193
Max Magnitude0
ClinVar
Risk rs118192193(G;G)
Alt rs118192193(G;G)
Reference rs118192193(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.62078131T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020994.1,


OMIM121200
Desc
Variant
Relatedalso