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rs796052651

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs796052651(A;G)
Make rs796052651(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63413547
GeneKCNQ2, LOC105372724
is asnp
is mentioned by
dbSNPrs796052651
dbSNP (old)rs796052651
ClinGenrs796052651
ebirs796052651
HLIrs796052651
Exacrs796052651
Gnomadrs796052651
Varsomers796052651
Maprs796052651
PheGenIrs796052651
Biobankrs796052651
1000 genomesrs796052651
hgdprs796052651
ensemblrs796052651
gopubmedrs796052651
geneviewrs796052651
scholarrs796052651
googlers796052651
pharmgkbrs796052651
gwascentralrs796052651
openSNPrs796052651
23andMers796052651
23andMe allrs796052651
SNP Nexus

SNPshotrs796052651
SNPdbers796052651
MSV3drs796052651
GWAS Ctlgrs796052651
Max Magnitude0
ClinVar
Risk rs796052651(G;G)
Alt rs796052651(G;G)
Reference Rs796052651(A;A)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 7
Variation info
Gene KCNQ2
CLNDBN Early infantile epileptic encephalopathy 7
Reversed 1
HGVS NC_000020.10:g.62044900T>C
CLNSRC
CLNACC RCV000408752.1,