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rs864321709

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864321709(C;C)
Make rs864321709(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63438705
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs864321709
ebirs864321709
HLIrs864321709
Exacrs864321709
Varsomers864321709
Maprs864321709
PheGenIrs864321709
hapmaprs864321709
1000 genomesrs864321709
hgdprs864321709
ensemblrs864321709
gopubmedrs864321709
geneviewrs864321709
scholarrs864321709
googlers864321709
pharmgkbrs864321709
gwascentralrs864321709
openSNPrs864321709
23andMers864321709
23andMe allrs864321709
SNP Nexus

SNPshotrs864321709
SNPdbers864321709
MSV3drs864321709
GWAS Ctlgrs864321709
Max Magnitude0
ClinVar
Risk rs864321709(C;C)
Alt rs864321709(C;C)
Reference rs864321709(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.62070058C>G
CLNSRC
CLNACC RCV000203599.1,