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rs587780365

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587780365(-;-)
Make rs587780365(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position63428387
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs587780365
ebirs587780365
HLIrs587780365
Exacrs587780365
Varsomers587780365
Maprs587780365
PheGenIrs587780365
hapmaprs587780365
1000 genomesrs587780365
hgdprs587780365
ensemblrs587780365
gopubmedrs587780365
geneviewrs587780365
scholarrs587780365
googlers587780365
pharmgkbrs587780365
gwascentralrs587780365
openSNPrs587780365
23andMers587780365
23andMe allrs587780365
SNP Nexus

SNPshotrs587780365
SNPdbers587780365
MSV3drs587780365
GWAS Ctlgrs587780365
Max Magnitude0
ClinVar
Risk rs587780365(;)
Alt rs587780365(;)
Reference rs587780365(T;T)
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.62059740delA
CLNSRC
CLNACC RCV000117334.1,