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rs864321710

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864321710(A;A)
Make rs864321710(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63445364
GeneKCNQ2, LOC105372720
is asnp
is mentioned by
dbSNPrs864321710
ClinGenrs864321710
ebirs864321710
HLIrs864321710
Exacrs864321710
Varsomers864321710
Maprs864321710
PheGenIrs864321710
hapmaprs864321710
1000 genomesrs864321710
hgdprs864321710
ensemblrs864321710
gopubmedrs864321710
geneviewrs864321710
scholarrs864321710
googlers864321710
pharmgkbrs864321710
gwascentralrs864321710
openSNPrs864321710
23andMers864321710
23andMe allrs864321710
SNP Nexus

SNPshotrs864321710
SNPdbers864321710
MSV3drs864321710
GWAS Ctlgrs864321710
Max Magnitude0
ClinVar
Risk rs864321710(A;A)
Alt rs864321710(A;A)
Reference Rs864321710(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.62076717C>T
CLNSRC
CLNACC RCV000203592.1,