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rs118192245

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192245(-;-)
Make rs118192245(-;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63406666
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192245
ebirs118192245
HLIrs118192245
Exacrs118192245
Varsomers118192245
Maprs118192245
PheGenIrs118192245
hapmaprs118192245
1000 genomesrs118192245
hgdprs118192245
ensemblrs118192245
gopubmedrs118192245
geneviewrs118192245
scholarrs118192245
googlers118192245
pharmgkbrs118192245
gwascentralrs118192245
openSNPrs118192245
23andMers118192245
23andMe allrs118192245
SNP Nexus

SNPshotrs118192245
SNPdbers118192245
MSV3drs118192245
GWAS Ctlgrs118192245
Max Magnitude0
ClinVar
Risk rs118192245(;)
Alt rs118192245(;)
Reference rs118192245(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.62038019delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020989.1,


OMIM121200
Desc
Variant
Relatedalso