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rs796052652

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796052652(C;T)
Make rs796052652(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63413531
GeneKCNQ2, LOC105372724
is asnp
is mentioned by
dbSNPrs796052652
dbSNP (classic)rs796052652
ClinGenrs796052652
ebirs796052652
HLIrs796052652
Exacrs796052652
Gnomadrs796052652
Varsomers796052652
LitVarrs796052652
Maprs796052652
PheGenIrs796052652
Biobankrs796052652
1000 genomesrs796052652
hgdprs796052652
ensemblrs796052652
geneviewrs796052652
scholarrs796052652
googlers796052652
pharmgkbrs796052652
gwascentralrs796052652
openSNPrs796052652
23andMers796052652
SNPshotrs796052652
SNPdbers796052652
MSV3drs796052652
GWAS Ctlgrs796052652
Max Magnitude0
ClinVar
Risk rs796052652(T;T)
Alt rs796052652(T;T)
Reference Rs796052652(C;C)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy 7
Variation info
Gene KCNQ2
CLNDBN not provided Early infantile epileptic encephalopathy 7
Reversed 1
HGVS NC_000020.10:g.62044884G>A
CLNSRC
CLNACC RCV000187916.2, RCV000408726.1,