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rs397515420

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515420(A;G)
Make rs397515420(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position63413577
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs397515420
ebirs397515420
HLIrs397515420
Exacrs397515420
Varsomers397515420
Maprs397515420
PheGenIrs397515420
hapmaprs397515420
1000 genomesrs397515420
hgdprs397515420
ensemblrs397515420
gopubmedrs397515420
geneviewrs397515420
scholarrs397515420
googlers397515420
pharmgkbrs397515420
gwascentralrs397515420
openSNPrs397515420
23andMers397515420
23andMe allrs397515420
SNP Nexus

SNPshotrs397515420
SNPdbers397515420
MSV3drs397515420
GWAS Ctlgrs397515420
Max Magnitude0
ClinVar
Risk rs397515420(G;G)
Alt rs397515420(G;G)
Reference rs397515420(A;A)
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.62044930T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032980.2,