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rs796052653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796052653(A;A)
Make rs796052653(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63413526
GeneKCNQ2, LOC105372724
is asnp
is mentioned by
dbSNPrs796052653
dbSNP (old)rs796052653
ClinGenrs796052653
ebirs796052653
HLIrs796052653
Exacrs796052653
Gnomadrs796052653
Varsomers796052653
Maprs796052653
PheGenIrs796052653
Biobankrs796052653
1000 genomesrs796052653
hgdprs796052653
ensemblrs796052653
gopubmedrs796052653
geneviewrs796052653
scholarrs796052653
googlers796052653
pharmgkbrs796052653
gwascentralrs796052653
openSNPrs796052653
23andMers796052653
23andMe allrs796052653
SNP Nexus

SNPshotrs796052653
SNPdbers796052653
MSV3drs796052653
GWAS Ctlgrs796052653
Max Magnitude0
ClinVar
Risk rs796052653(A;A)
Alt rs796052653(A;A)
Reference Rs796052653(G;G)
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.62044879C>A; NC_000020.10:g.62044879C>T
CLNSRC
CLNACC RCV000493453.1, RCV000187917.3, RCV000408745.1,