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rs864321708

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs864321708(C;C)
Make rs864321708(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63442419
GeneKCNQ2
is asnp
is mentioned by
dbSNPrs864321708
ebirs864321708
HLIrs864321708
Exacrs864321708
Varsomers864321708
Maprs864321708
PheGenIrs864321708
hapmaprs864321708
1000 genomesrs864321708
hgdprs864321708
ensemblrs864321708
gopubmedrs864321708
geneviewrs864321708
scholarrs864321708
googlers864321708
pharmgkbrs864321708
gwascentralrs864321708
openSNPrs864321708
23andMers864321708
23andMe allrs864321708
SNP Nexus

SNPshotrs864321708
SNPdbers864321708
MSV3drs864321708
GWAS Ctlgrs864321708
Max Magnitude0
ClinVar
Risk rs864321708(C;C)
Alt rs864321708(C;C)
Reference rs864321708(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.62073772A>G
CLNSRC
CLNACC RCV000203583.1,