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rs796052650

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796052650(C;T)
Make rs796052650(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position63413574
GeneKCNQ2, LOC105372724
is asnp
is mentioned by
dbSNPrs796052650
ebirs796052650
HLIrs796052650
Exacrs796052650
Varsomers796052650
Maprs796052650
PheGenIrs796052650
hapmaprs796052650
1000 genomesrs796052650
hgdprs796052650
ensemblrs796052650
gopubmedrs796052650
geneviewrs796052650
scholarrs796052650
googlers796052650
pharmgkbrs796052650
gwascentralrs796052650
openSNPrs796052650
23andMers796052650
23andMe allrs796052650
SNP Nexus

SNPshotrs796052650
SNPdbers796052650
MSV3drs796052650
GWAS Ctlgrs796052650
Max Magnitude0
ClinVar
Risk rs796052650(T;T)
Alt rs796052650(T;T)
Reference rs796052650(C;C)
Significance Probable-Pathogenic
Disease not provided Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN not provided Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62044927G>A; NC_000020.10:g.62044927G>C
CLNSRC University Hospital of Geneva
CLNACC RCV000187911.1, RCV000211481.1,