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rs794729197

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs794729197(-;ACC)
Make rs794729197(ACC;ACC)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63442523
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs794729197
dbSNP (old)rs794729197
ClinGenrs794729197
ebirs794729197
HLIrs794729197
Exacrs794729197
Gnomadrs794729197
Varsomers794729197
Maprs794729197
PheGenIrs794729197
Biobankrs794729197
1000 genomesrs794729197
hgdprs794729197
ensemblrs794729197
gopubmedrs794729197
geneviewrs794729197
scholarrs794729197
googlers794729197
pharmgkbrs794729197
gwascentralrs794729197
openSNPrs794729197
23andMers794729197
23andMe allrs794729197
SNP Nexus

SNPshotrs794729197
SNPdbers794729197
MSV3drs794729197
GWAS Ctlgrs794729197
Max Magnitude0
ClinVar
Risk rs794729197(ACC;ACC)
Alt rs794729197(ACC;ACC)
Reference Rs794729197(-;-)
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.62073876_62073877insGGT
CLNSRC
CLNACC RCV000184016.2,