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rs118192192

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
Make rs118192192(-;-)
Make rs118192192(-;AAG)
ReferenceGRCh38 38.1/141
Chromosome20
Position63446786
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192192
ebirs118192192
HLIrs118192192
Exacrs118192192
Varsomers118192192
Maprs118192192
PheGenIrs118192192
hapmaprs118192192
1000 genomesrs118192192
hgdprs118192192
ensemblrs118192192
gopubmedrs118192192
geneviewrs118192192
scholarrs118192192
googlers118192192
pharmgkbrs118192192
gwascentralrs118192192
openSNPrs118192192
23andMers118192192
23andMe allrs118192192
SNP Nexus

SNPshotrs118192192
SNPdbers118192192
MSV3drs118192192
GWAS Ctlgrs118192192
Max Magnitude0
ClinVar
Risk rs118192192(;)
Alt rs118192192(;)
Reference rs118192192(AAG;AAG)
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.62078139_62078141delCTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020993.1,


OMIM121200
Desc
Variant
Relatedalso