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rs796052618

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796052618(A;A)
Make rs796052618(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63445321
GeneKCNQ2, LOC105372720
is asnp
is mentioned by
dbSNPrs796052618
ClinGenrs796052618
ebirs796052618
HLIrs796052618
Exacrs796052618
Varsomers796052618
Maprs796052618
PheGenIrs796052618
hapmaprs796052618
1000 genomesrs796052618
hgdprs796052618
ensemblrs796052618
gopubmedrs796052618
geneviewrs796052618
scholarrs796052618
googlers796052618
pharmgkbrs796052618
gwascentralrs796052618
openSNPrs796052618
23andMers796052618
23andMe allrs796052618
SNP Nexus

SNPshotrs796052618
SNPdbers796052618
MSV3drs796052618
GWAS Ctlgrs796052618
Max Magnitude0
ClinVar
Risk rs796052618(A;A)
Alt rs796052618(A;A)
Reference Rs796052618(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.62076674C>T
CLNSRC
CLNACC RCV000187853.2, RCV000408747.1,