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rs587780369

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587780369(G;T)
Make rs587780369(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position63406650
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs587780369
dbSNP (classic)rs587780369
ClinGenrs587780369
ebirs587780369
HLIrs587780369
Exacrs587780369
Gnomadrs587780369
Varsomers587780369
LitVarrs587780369
Maprs587780369
PheGenIrs587780369
Biobankrs587780369
1000 genomesrs587780369
hgdprs587780369
ensemblrs587780369
geneviewrs587780369
scholarrs587780369
googlers587780369
pharmgkbrs587780369
gwascentralrs587780369
openSNPrs587780369
23andMers587780369
SNPshotrs587780369
SNPdbers587780369
MSV3drs587780369
GWAS Ctlgrs587780369
Max Magnitude0
ClinVar
Risk rs587780369(T;T)
Alt rs587780369(T;T)
Reference Rs587780369(G;G)
Significance Pathogenic
Disease not specified Early infantile epileptic encephalopathy 7 Early infantile epileptic encephalopathy
Variation info
Gene KCNQ2
CLNDBN not specified Early infantile epileptic encephalopathy 7 Early infantile epileptic encephalopathy
Reversed 1
HGVS NC_000020.10:g.62038003C>A
CLNSRC
CLNACC RCV000117347.4, RCV000408670.1, RCV000461909.1,