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rs864321711

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864321711(C;T)
Make rs864321711(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63407116
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs864321711
ebirs864321711
HLIrs864321711
Exacrs864321711
Varsomers864321711
Maprs864321711
PheGenIrs864321711
hapmaprs864321711
1000 genomesrs864321711
hgdprs864321711
ensemblrs864321711
gopubmedrs864321711
geneviewrs864321711
scholarrs864321711
googlers864321711
pharmgkbrs864321711
gwascentralrs864321711
openSNPrs864321711
23andMers864321711
23andMe allrs864321711
SNP Nexus

SNPshotrs864321711
SNPdbers864321711
MSV3drs864321711
GWAS Ctlgrs864321711
Max Magnitude0
ClinVar
Risk rs864321711(T;T)
Alt rs864321711(T;T)
Reference rs864321711(C;C)
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.62038469G>A
CLNSRC
CLNACC RCV000203584.1,