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rs797044938

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044938(C;C)
Make rs797044938(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63442529
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs797044938
dbSNP (classic)rs797044938
ClinGenrs797044938
ebirs797044938
HLIrs797044938
Exacrs797044938
Gnomadrs797044938
Varsomers797044938
LitVarrs797044938
Maprs797044938
PheGenIrs797044938
Biobankrs797044938
1000 genomesrs797044938
hgdprs797044938
ensemblrs797044938
geneviewrs797044938
scholarrs797044938
googlers797044938
pharmgkbrs797044938
gwascentralrs797044938
openSNPrs797044938
23andMers797044938
SNPshotrs797044938
SNPdbers797044938
MSV3drs797044938
GWAS Ctlgrs797044938
Max Magnitude0
ClinVar
Risk rs797044938(C;C) rs797044938(T;T)
Alt rs797044938(C;C) rs797044938(T;T)
Reference Rs797044938(G;G)
Significance Pathogenic
Disease Seizures Inborn genetic diseases
Variation info
Gene KCNQ2
CLNDBN Seizures Inborn genetic diseases
Reversed 1
HGVS NC_000020.10:g.62073882C>A; NC_000020.10:g.62073882C>G
CLNSRC
CLNACC RCV000192641.1, RCV000190782.1,