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rs118192196

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGA;GGA) 0 common in clinvar
Make rs118192196(-;-)
Make rs118192196(-;AGG)
Make rs118192196(AGG;AGG)
ReferenceGRCh38 38.1/141
Chromosome20
Position63445364
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs118192196
ebirs118192196
HLIrs118192196
Exacrs118192196
Varsomers118192196
Maprs118192196
PheGenIrs118192196
hapmaprs118192196
1000 genomesrs118192196
hgdprs118192196
ensemblrs118192196
gopubmedrs118192196
geneviewrs118192196
scholarrs118192196
googlers118192196
pharmgkbrs118192196
gwascentralrs118192196
openSNPrs118192196
23andMers118192196
23andMe allrs118192196
SNP Nexus

SNPshotrs118192196
SNPdbers118192196
MSV3drs118192196
GWAS Ctlgrs118192196
Max Magnitude0
ClinVar
Risk rs118192196(;)
Alt rs118192196(;)
Reference rs118192196(GGA;GGA)
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.62076717_62076719delCCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020997.1,