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rs864321712

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864321712(C;T)
Make rs864321712(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63446815
GeneKCNQ2, LOC105372720
is asnp
is mentioned by
dbSNPrs864321712
ebirs864321712
HLIrs864321712
Exacrs864321712
Varsomers864321712
Maprs864321712
PheGenIrs864321712
hapmaprs864321712
1000 genomesrs864321712
hgdprs864321712
ensemblrs864321712
gopubmedrs864321712
geneviewrs864321712
scholarrs864321712
googlers864321712
pharmgkbrs864321712
gwascentralrs864321712
openSNPrs864321712
23andMers864321712
23andMe allrs864321712
SNP Nexus

SNPshotrs864321712
SNPdbers864321712
MSV3drs864321712
GWAS Ctlgrs864321712
Max Magnitude0
ClinVar
Risk rs864321712(T;T)
Alt rs864321712(T;T)
Reference rs864321712(C;C)
Significance Pathogenic
Disease Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62078168G>A
CLNSRC
CLNACC RCV000203587.1,