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rs397514582

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514582(A;A)
Make rs397514582(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63439656
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs397514582
ebirs397514582
HLIrs397514582
Exacrs397514582
Varsomers397514582
Maprs397514582
PheGenIrs397514582
hapmaprs397514582
1000 genomesrs397514582
hgdprs397514582
ensemblrs397514582
gopubmedrs397514582
geneviewrs397514582
scholarrs397514582
googlers397514582
pharmgkbrs397514582
gwascentralrs397514582
openSNPrs397514582
23andMers397514582
23andMe allrs397514582
SNP Nexus

SNPshotrs397514582
SNPdbers397514582
MSV3drs397514582
GWAS Ctlgrs397514582
Max Magnitude0
ClinVar
Risk rs397514582(A;A)
Alt rs397514582(A;A)
Reference rs397514582(G;G)
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.62071009C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032981.2,